ClinVar Miner

List of variants studied for congenital hypogonadotropic hypogonadism by Reproductive Endocrine Unit, Massachusetts General Hospital

Included ClinVar conditions (68):
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ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_006080.3(SEMA3A):c.2189G>A (p.Arg730Gln) rs318240752 0.00003
NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter) rs886039395
NM_001030055.2(ARHGAP5):c.1504del (p.Tyr502fs)
NM_001030055.2(ARHGAP5):c.2366dup (p.Phe790fs)
NM_004491.5(ARHGAP35):c.1800_1803del (p.Val601fs)
NM_004491.5(ARHGAP35):c.2565C>A (p.Tyr855Ter)
NM_004491.5(ARHGAP35):c.325C>T (p.Arg109Ter)
NM_004491.5(ARHGAP35):c.3283_3286delinsT (p.Val1095_Lys1096delinsTer)
NM_004491.5(ARHGAP35):c.345del (p.Tyr116fs)
NM_004491.5(ARHGAP35):c.352A>T (p.Lys118Ter)
NM_004491.5(ARHGAP35):c.3569_3570del (p.Glu1190fs)
NM_004491.5(ARHGAP35):c.3850C>T (p.Arg1284Trp)
NM_004491.5(ARHGAP35):c.3992C>T (p.Pro1331Leu)
NM_004491.5(ARHGAP35):c.4018G>A (p.Asp1340Asn)
NM_004491.5(ARHGAP35):c.4049G>A (p.Arg1350Gln)
NM_004491.5(ARHGAP35):c.4105C>G (p.His1369Asp)
NM_004491.5(ARHGAP35):c.4235T>C (p.Met1412Thr)
NM_004491.5(ARHGAP35):c.4240G>A (p.Ala1414Thr)
NM_004491.5(ARHGAP35):c.4255C>T (p.Arg1419Cys)
NM_004491.5(ARHGAP35):c.4297C>G (p.Pro1433Ala)
NM_004491.5(ARHGAP35):c.516del (p.Asn173fs)
NM_006086.4(TUBB3):c.1031G>A (p.Trp344Ter)
NM_012414.4(RAB3GAP2):c.1283C>A (p.Ala428Glu) rs1658614059
NM_012414.4(RAB3GAP2):c.387-2A>G rs769114540
NM_023110.3(FGFR1):c.2182G>A (p.Glu728Lys)
NM_175737.4(KLB):c.3086A>T (p.Lys1029Ile)
NM_175737.4(KLB):c.878A>T (p.Lys293Met)
NM_178822.5(IGSF10):c.182G>A (p.Arg61His)

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