ClinVar Miner

List of variants reported as likely benign for Hyperparathyroidism 4; Hypoparathyroidism, familial isolated, 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004752.4(GCM2):c.1060A>G (p.Met354Val) rs61734278 0.01292
NM_004752.4(GCM2):c.943A>G (p.Asn315Asp) rs114070356 0.00258
NM_004752.4(GCM2):c.306G>A (p.Arg102=) rs149143032 0.00142
NM_004752.4(GCM2):c.318C>T (p.Cys106=) rs749600723 0.00004
NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup) rs551375300
NM_004752.4(GCM2):c.129C>G (p.Asp43Glu) rs141188465

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