ClinVar Miner

List of variants reported as uncertain significance for multiple congenital anomalies/dysmorphic syndrome by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (856):
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ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.12862C>T (p.Arg4288Trp) rs542331667 0.00007
NM_003482.4(KMT2D):c.11347C>G (p.Gln3783Glu) rs752477959 0.00006
NM_001080517.3(SETD5):c.4159C>T (p.Arg1387Trp) rs560529972 0.00003
NM_001291415.2(KDM6A):c.2180G>A (p.Gly727Asp) rs759576784 0.00003
NM_004958.4(MTOR):c.5890A>G (p.Ile1964Val) rs759436987 0.00002
NM_032444.4(SLX4):c.4739+7G>A rs748897456 0.00002
NM_002968.3(SALL1):c.1778G>A (p.Ser593Asn) rs748432190 0.00001
NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys) rs1452482859 0.00001
NM_006306.4(SMC1A):c.2345G>A (p.Arg782Gln) rs782733394 0.00001
NM_006767.4(LZTR1):c.361C>T (p.His121Tyr) rs1569154492 0.00001
NM_024675.4(PALB2):c.3350+11A>G rs515726114 0.00001
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys) rs973621936 0.00001
NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro) rs55877890
NM_000325.6(PITX2):c.430C>G (p.Arg144Gly) rs1057519485
NM_000325.6(PITX2):c.433G>C (p.Ala145Pro) rs1057519486
NM_001081550.2(THOC2):c.1010T>C (p.Val337Ala)
NM_001270.4(CHD1):c.4760A>G (p.Asp1587Gly)
NM_001330078.2(NRXN1):c.2635T>C (p.Tyr879His)
NM_001371623.1(TCOF1):c.4023G>T (p.Lys1341Asn) rs199890846
NM_001378183.1(PIEZO2):c.3358T>C (p.Phe1120Leu)
NM_001378964.1(CDON):c.1177G>A (p.Gly393Arg)
NM_001379291.1(BRD4):c.2825C>T (p.Thr942Met)
NM_001429.4(EP300):c.3098C>T (p.Ser1033Leu)
NM_001453.3(FOXC1):c.268G>A (p.Ala90Thr) rs1057519473
NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp) rs1057519474
NM_001453.3(FOXC1):c.457A>C (p.Thr153Pro) rs1057519476
NM_003070.5(SMARCA2):c.1676GGA[2] (p.Arg561_Arg562del) rs754525705
NM_003072.5(SMARCA4):c.1345G>A (p.Glu449Lys)
NM_003107.3(SOX4):c.91_92delinsAA (p.Ala31Asn)
NM_003108.4(SOX11):c.356G>C (p.Arg119Pro) rs749901648
NM_003482.4(KMT2D):c.9490C>T (p.Arg3164Trp)
NM_004187.5(KDM5C):c.2624G>A (p.Gly875Asp) rs2146840102
NM_004380.3(CREBBP):c.1776G>C (p.Trp592Cys)
NM_004629.2(FANCG):c.1003G>A (p.Ala335Thr)
NM_005633.4(SOS1):c.2764A>G (p.Ile922Val) rs780420674
NM_005862.3(STAG1):c.3581C>T (p.Ala1194Val)
NM_006015.6(ARID1A):c.495_500del (p.Ala166_Ala167del) rs2124742134
NM_006147.4(IRF6):c.299C>G (p.Thr100Ser)
NM_006268.5(DPF2):c.508G>C (p.Glu170Gln)
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His) rs372417941
NM_007118.4(TRIO):c.6181T>G (p.Tyr2061Asp)
NM_013275.6(ANKRD11):c.7753C>T (p.Arg2585Cys) rs1567537304
NM_015335.5(MED13L):c.4789A>G (p.Ser1597Gly) rs2137274550
NM_019066.5(MAGEL2):c.626T>C (p.Met209Thr)
NM_022455.5(NSD1):c.4459A>G (p.Lys1487Glu)
NM_052867.4(NALCN):c.4104G>T (p.Arg1368Ser)
NM_133433.4(NIPBL):c.3213G>A (p.Met1071Ile) rs2149662601

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