ClinVar Miner

List of variants studied for familial hypoparathyroidism by OMIM

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_004752.4(GCM2):c.187G>A (p.Gly63Ser) rs104893960 0.00003
NG_008970.1:g.3172_(10967_10971)del
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_000388.4(CASR):c.141A>C (p.Lys47Asn) rs104893702
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) rs104893712
NM_000388.4(CASR):c.1835T>C (p.Phe612Ser) rs104893698
NM_000388.4(CASR):c.1846C>G (p.Leu616Val) rs104893703
NM_000388.4(CASR):c.2043G>T (p.Gln681His) rs121909261
NM_000388.4(CASR):c.2180T>A (p.Leu727Gln) rs104893718
NM_000388.4(CASR):c.2318T>G (p.Leu773Arg) rs104893699
NM_000388.4(CASR):c.2362T>C (p.Phe788Leu) rs104893711
NM_000388.4(CASR):c.2363T>G (p.Phe788Cys) rs104893701
NM_000388.4(CASR):c.2417T>C (p.Phe806Ser) rs104893693
NM_000388.4(CASR):c.2459C>T (p.Ser820Phe) rs104893710
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) rs104893706
NM_000388.4(CASR):c.2682_3224del (p.Ser895_Val1075del) rs1553769169
NM_000388.4(CASR):c.346G>A (p.Ala116Thr) rs104893691
NM_000388.4(CASR):c.354C>A (p.Asn118Lys) rs104893695
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) rs104893708
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) rs121909260
NM_000388.4(CASR):c.382T>C (p.Phe128Leu) rs104893696
NM_000388.4(CASR):c.452C>T (p.Thr151Met) rs104893694
NM_000388.4(CASR):c.571G>A (p.Glu191Lys) rs104893697
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) rs397514728
NM_002067.5(GNA11):c.1023C>G (p.Phe341Leu) rs140749796
NM_002067.5(GNA11):c.178C>T (p.Arg60Cys) rs587777021
NM_002067.5(GNA11):c.179G>T (p.Arg60Leu) rs587777707
NM_002067.5(GNA11):c.542G>A (p.Arg181Gln) rs587777020
NM_002067.5(GNA11):c.632C>G (p.Ser211Trp) rs587777022
NM_004752.4(GCM2):c.1389del (p.His465fs) rs2113242520
NM_004752.4(GCM2):c.1400del (p.Pro467fs) rs2113242469
NM_004752.4(GCM2):c.140G>T (p.Arg47Leu) rs104893959
NM_004752.4(GCM2):c.893del (p.Ile298fs) rs886037646

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