ClinVar Miner

List of variants studied for familial hypoparathyroidism by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NC_000006.11:g.(10875167_10876123)_(10882275_?)del
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) rs104893712
NM_000388.4(CASR):c.1934C>A (p.Ala645Asp) rs193922430
NM_000388.4(CASR):c.2008G>A (p.Gly670Arg) rs2074927550
NM_000388.4(CASR):c.2431A>G (p.Met811Val) rs1057521129
NM_000388.4(CASR):c.661C>T (p.Pro221Ser)
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) rs397514728
NM_004752.4(GCM2):c.22G>T (p.Glu8Ter)
NM_004752.4(GCM2):c.90+2T>G

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