ClinVar Miner

List of variants studied for hypoparathyroidism, familial isolated 1

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000315.4(PTH):c.-5-10G>A rs694 0.50325
NM_000315.4(PTH):c.247C>A (p.Arg83=) rs6256 0.12676
NM_000315.4(PTH):c.52T>C (p.Cys18Arg) rs104894271
NM_000315.4(PTH):c.67T>C (p.Ser23Pro) rs104894272
NM_000315.4(PTH):c.86+1G>C rs2134093224
NM_000315.4(PTH):c.86+4_86+7del
NM_000315.4(PTH):c.98T>A (p.Val33Glu)

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