ClinVar Miner

List of variants studied for Adams-Oliver syndrome 1

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_020754.4(ARHGAP31):c.2407G>A (p.Gly803Ser) rs3732413 0.83326
NM_020754.4(ARHGAP31):c.1926+5A>G rs1463139 0.65459
NM_020754.4(ARHGAP31):c.1926+11T>C rs1463138 0.48304
NM_020754.4(ARHGAP31):c.100+77A>T rs3732412 0.47316
NM_020754.4(ARHGAP31):c.1926+89T>A rs12636976 0.38289
NM_020754.4(ARHGAP31):c.1070-92G>C rs10511390 0.30391
NM_020754.4(ARHGAP31):c.1701G>A (p.Pro567=) rs2305249 0.15274
NM_020754.4(ARHGAP31):c.2778G>A (p.Ala926=) rs61740281 0.13242
NM_020754.4(ARHGAP31):c.3615C>T (p.Pro1205=) rs3732414 0.11988
NM_020754.4(ARHGAP31):c.-38C>A rs72960626 0.08337
NM_020754.4(ARHGAP31):c.540-6C>T rs16829782 0.06792
NM_020754.4(ARHGAP31):c.432-100T>A rs73187863 0.06662
NM_020754.4(ARHGAP31):c.881+7G>A rs78837524 0.05414
NM_020754.4(ARHGAP31):c.1533A>G (p.Thr511=) rs77678258 0.02008
NM_020754.4(ARHGAP31):c.1700C>T (p.Pro567Leu) rs61744178 0.01996
NM_020754.4(ARHGAP31):c.1491C>A (p.Arg497=) rs61747387 0.01984
NM_020754.4(ARHGAP31):c.1614A>G (p.Glu538=) rs61744411 0.01720
NM_020754.4(ARHGAP31):c.682+19A>C rs72966429 0.01642
NM_020754.4(ARHGAP31):c.432-7A>G rs10049221 0.00871
NM_020754.4(ARHGAP31):c.3256G>A (p.Ala1086Thr) rs61744168 0.00542
NM_020754.4(ARHGAP31):c.384G>C (p.Leu128=) rs150339878 0.00503
NM_020754.4(ARHGAP31):c.1597G>A (p.Gly533Arg) rs75764457 0.00387
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_020754.4(ARHGAP31):c.654C>T (p.Asn218=) rs145326425 0.00294
NM_020754.4(ARHGAP31):c.349-7T>G rs200397968 0.00173
NM_020754.4(ARHGAP31):c.1618A>G (p.Lys540Glu) rs61744410 0.00172
NM_020754.4(ARHGAP31):c.936T>C (p.Arg312=) rs200813566 0.00113
NM_020754.4(ARHGAP31):c.2359C>G (p.Pro787Ala) rs186621177 0.00105
NM_020754.4(ARHGAP31):c.2364A>T (p.Pro788=) rs61746581 0.00095
NM_020754.4(ARHGAP31):c.4096G>A (p.Val1366Met) rs3796360 0.00031
NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser) rs147415811 0.00022
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) rs587778559 0.00021
NM_020754.4(ARHGAP31):c.688C>T (p.Arg230Trp) rs200204811 0.00005
NM_020754.4(ARHGAP31):c.3596C>T (p.Ala1199Val) rs534166705 0.00004
NM_020754.4(ARHGAP31):c.*466C>T rs116944967 0.00002
NM_020754.4(ARHGAP31):c.4139C>T (p.Thr1380Ile) rs9852894 0.00002
NM_020812.4(DOCK6):c.4576C>T (p.Arg1526Ter) rs374530179 0.00002
NM_020754.4(ARHGAP31):c.*1533T>C rs567101775 0.00001
NM_020754.4(ARHGAP31):c.3007G>A (p.Ala1003Thr) rs761910919 0.00001
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) rs372751467 0.00001
NM_001278689.2(EOGT):c.1074del (p.Gly359fs) rs587776994
NM_017617.5(NOTCH1):c.4668G>A (p.Trp1556Ter) rs2133337500
NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg) rs796065347
NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr) rs796065346
NM_019074.4(DLL4):c.1365C>G (p.Cys455Trp) rs796065345
NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter) rs796065344
NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter) rs61750844
NM_019074.4(DLL4):c.361G>C (p.Ala121Pro) rs796065350
NM_019074.4(DLL4):c.556C>T (p.Arg186Cys) rs796065348
NM_019074.4(DLL4):c.583T>C (p.Phe195Leu) rs796065351
NM_019074.4(DLL4):c.799C>A (p.Pro267Thr) rs796065349
NM_020754.4(ARHGAP31):c.-172CCCGCGG[3] rs886057796
NM_020754.4(ARHGAP31):c.1063G>T (p.Val355Leu)
NM_020754.4(ARHGAP31):c.1150G>A (p.Gly384Ser)
NM_020754.4(ARHGAP31):c.1220C>A (p.Ala407Asp)
NM_020754.4(ARHGAP31):c.1276C>G (p.Arg426Gly)
NM_020754.4(ARHGAP31):c.1345A>G (p.Lys449Glu)
NM_020754.4(ARHGAP31):c.142C>T (p.His48Tyr) rs2080244695
NM_020754.4(ARHGAP31):c.1462G>C (p.Glu488Gln)
NM_020754.4(ARHGAP31):c.1487T>C (p.Leu496Pro)
NM_020754.4(ARHGAP31):c.1807G>A (p.Glu603Lys)
NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter) rs387907031
NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter) rs1553768038
NM_020754.4(ARHGAP31):c.2411C>A (p.Pro804Gln) rs760373610
NM_020754.4(ARHGAP31):c.2471C>T (p.Ser824Phe) rs1395872373
NM_020754.4(ARHGAP31):c.3199A>G (p.Ser1067Gly)
NM_020754.4(ARHGAP31):c.3223G>A (p.Val1075Met)
NM_020754.4(ARHGAP31):c.3247G>A (p.Glu1083Lys) rs2107647546
NM_020754.4(ARHGAP31):c.3260del (p.Lys1087fs) rs1559999373
NM_020754.4(ARHGAP31):c.349-9_349-7del rs771235886
NM_020754.4(ARHGAP31):c.3545G>A (p.Ser1182Asn)
NM_020754.4(ARHGAP31):c.3635T>C (p.Ile1212Thr)
NM_020754.4(ARHGAP31):c.3698A>T (p.Gln1233Leu)
NM_020754.4(ARHGAP31):c.3953G>T (p.Gly1318Val) rs529703977
NM_020754.4(ARHGAP31):c.4289G>A (p.Arg1430Gln)
NM_020754.4(ARHGAP31):c.482G>C (p.Ser161Thr)
NM_020754.4(ARHGAP31):c.745A>G (p.Ser249Gly) rs2080497464
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) rs730882238

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