List of variants reported as pathogenic for parathyroid gland disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)	rs201633414	0.00010
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675
NM_000388.4(CASR):c.452C>T (p.Thr151Met)	rs104893694
NM_000516.7(GNAS):c.308T>C (p.Ile103Thr)
NM_000516.7(GNAS):c.338T>A (p.Leu113Gln)
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)	rs797045046
NM_000516.7(GNAS):c.476T>C (p.Val159Ala)
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del)	rs869025185
NM_001370259.2(MEN1):c.402del (p.Phe134fs)	rs397515385

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