ClinVar Miner

List of variants reported as likely pathogenic for parathyroid gland disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.114_115insAG (p.Pro39fs) rs2146375213
NM_000383.4(AIRE):c.1267G>T (p.Glu423Ter)
NM_000383.4(AIRE):c.1490del (p.Pro497fs) rs750764323
NM_000383.4(AIRE):c.47C>G (p.Thr16Arg)
NM_000388.4(CASR):c.1934C>A (p.Ala645Asp) rs193922430
NM_001370259.2(MEN1):c.1013dup (p.Gln339fs) rs386134245
NM_001370259.2(MEN1):c.1043T>A (p.Ile348Asn)
NM_001370259.2(MEN1):c.1063del (p.Arg355fs) rs386134246
NM_001370259.2(MEN1):c.1102del (p.Ala368fs) rs2136110242
NM_001370259.2(MEN1):c.1174dup (p.Glu392fs) rs386134247
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr) rs386134249
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser) rs1941604532
NM_001370259.2(MEN1):c.134A>T (p.Glu45Val)
NM_001370259.2(MEN1):c.1564dup (p.Val522fs) rs1941522995
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter) rs1555166567
NM_001370259.2(MEN1):c.252dup (p.Ile85fs) rs386134253
NM_001370259.2(MEN1):c.274del (p.Arg92fs) rs2136186754
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
NM_001370259.2(MEN1):c.417C>G (p.His139Gln) rs386134254
NM_001370259.2(MEN1):c.465_466insAATT (p.Gly156fs) rs386134255
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro) rs376872829
NM_001370259.2(MEN1):c.649_654+2del rs386134258
NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter) rs386134259
NM_001370259.2(MEN1):c.912+2T>A
NM_001370259.2(MEN1):c.955dup (p.Tyr319fs) rs386134261
NM_004752.4(GCM2):c.90+2T>G
NM_024529.5(CDC73):c.480_481del (p.His160fs) rs1572152420

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