ClinVar Miner

List of variants reported as pathogenic by Institute of Reproductive Genetics, University of Münster

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_031272.5(TEX14):c.1003C>T (p.Arg335Ter) rs141801212 0.00112
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000044.6(AR):c.1792A>G (p.Ser598Gly) rs142280455 0.00038
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000044.6(AR):c.1301C>T (p.Ser434Phe) rs748457992 0.00011
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_004959.5(NR5A1):c.1052C>T (p.Ala351Val) rs759071081 0.00004
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) rs121908805 0.00003
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.579+3A>G rs397508761 0.00002
NM_000492.4(CFTR):c.2917C>T (p.Leu973Phe) rs747139295 0.00001
NM_001136046.3(ZMYND15):c.931C>T (p.Arg311Ter) rs148161063 0.00001
NM_000044.6(AR):c.2059T>C (p.Cys687Arg)
NM_000044.6(AR):c.2270A>G (p.Asn757Ser)
NM_000044.6(AR):c.2486A>T (p.Asp829Val) rs2147537806
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.54-5940_273+10250del
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu) rs121909016
NM_001079858.3(ADGRG2):c.2033_2035delinsACTCGTGGATTGCTCTG (p.Val678fs) rs2146526778
NM_001136505.2(TERB1):c.1703C>G (p.Ser568Ter) rs2145104416
NM_001145400.2(ADAD2):c.515_516insA (p.Leu173fs) rs2151327314
NM_001350162.2(TEX15):c.8197_8198del (p.Glu2733fs) rs1351772557
NM_001378211.1(SHOC1):c.1277_1278del (p.Glu426fs) rs2131485407
NM_001384355.1(RAD21L1):c.85A>T (p.Lys29Ter) rs1161340148
NM_003602.5(FKBP6):c.508_529dup (p.Phe177fs)
NM_003602.5(FKBP6):c.589-2A>G
NM_014258.4(SYCP2):c.2022_2025del (p.Lys674fs) rs1600877766
NM_014258.4(SYCP2):c.2793_2797del (p.Lys932fs) rs1600840291
NM_014258.4(SYCP2):c.3067_3071del (p.Lys1023fs) rs753462162
NM_031272.5(TEX14):c.2944C>T (p.Gln982Ter) rs2144412389
NM_031272.5(TEX14):c.3168C>A (p.Tyr1056Ter) rs56315337
NM_031272.5(TEX14):c.3482_3486del (p.Pro1161fs) rs2144367372
NM_031272.5(TEX14):c.3549C>A (p.Cys1183Ter) rs2144363211
NM_031272.5(TEX14):c.3625_3628del (p.Ser1209fs) rs553754986
NM_130806.5(RXFP2):c.1406del (p.Phe469fs)
NM_172166.4(MSH5):c.1857del (p.Ala620fs) rs1562249204
NM_172166.4(MSH5):c.75dup (p.Ser26fs) rs961633772

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