ClinVar Miner

List of variants reported as not provided for parathyroid gland disorder

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_001370259.2(MEN1):c.492C>T (p.Ala164=) rs146759807 0.00010
NM_024529.5(CDC73):c.1066+8T>C rs80356647 0.00006
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln) rs753878067 0.00002
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267 0.00001
NM_000383.4(AIRE):c.682G>T (p.Gly228Trp) rs121434257
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000388.4(CASR):c.209G>A (p.Trp70Ter) rs2107627458
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe) rs1453953571
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr) rs1244383237
NM_000388.4(CASR):c.494T>G (p.Val165Gly) rs1559958757
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys) rs137854532
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp) rs794728620
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter) rs386134260
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.1418-17C>G rs11583414
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) rs80356649
NM_024529.5(CDC73):c.766_767del (p.Val256fs) rs80356650

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