ClinVar Miner

List of variants studied for Bartter syndrome with hypocalcemia by OMIM

Included ClinVar conditions (2):

Bartter syndrome with hypocalcemia
Neonatal severe primary hyperparathyroidism; Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Bartter syndrome with hypocalcemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)	rs104893706
NM_000388.4(CASR):c.374T>C (p.Leu125Pro)	rs104893708
NM_000388.4(CASR):c.393C>G (p.Cys131Trp)	rs121909267
NM_000388.4(CASR):c.85A>G (p.Lys29Glu)	rs397514729

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