ClinVar Miner

List of variants studied for congenital limb malformation by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_015425.6(POLR1A):c.1511G>A (p.Arg504His) rs142266408 0.00229
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_033116.6(NEK9):c.1126G>A (p.Ala376Thr) rs370474070 0.00022
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237 0.00016
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00014
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val) rs201574031 0.00013
NM_001080534.3(UNC13C):c.283C>T (p.Arg95Ter) rs777064285 0.00012
NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln) rs774776856 0.00008
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475 0.00003
NM_020812.4(DOCK6):c.6014G>A (p.Arg2005His) rs768594454 0.00003
NM_001374353.1(GLI2):c.2075T>C (p.Leu692Pro) rs781438228 0.00002
NM_001374353.1(GLI2):c.58C>G (p.Leu20Val) rs754532059 0.00002
NM_021939.4(FKBP10):c.1149G>T (p.Arg383Ser) rs782220242 0.00002
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_001079520.2(DACT1):c.2207C>T (p.Thr736Ile) rs2047696489 0.00001
NM_002470.4(MYH3):c.2473G>A (p.Val825Ile) rs1303823400 0.00001
NM_002472.3(MYH8):c.797T>C (p.Ile266Thr) rs753890411 0.00001
NM_017837.4(PIGV):c.607C>T (p.Arg203Cys) rs149690056 0.00001
NM_133433.4(NIPBL):c.7552G>A (p.Asp2518Asn) rs961989627 0.00001
NM_000141.5(FGFR2):c.1960A>G (p.Ile654Val) rs747718232
NM_001018113.3(FANCB):c.1458C>G (p.Ser486Arg) rs2092396657
NM_001374353.1(GLI2):c.1555G>T (p.Glu519Ter) rs1682776554
NM_001374353.1(GLI2):c.2283del (p.Ala763fs) rs2105084620
NM_001374353.1(GLI2):c.3625C>T (p.Arg1209Ter) rs1683184865
NM_001374353.1(GLI2):c.466G>A (p.Glu156Lys) rs1681195414
NM_001378183.1(PIEZO2):c.1741G>T (p.Gly581Ter) rs990982191
NM_001378414.1(HDAC4):c.1387C>T (p.Gln463Ter) rs2040205774
NM_001379291.1(BRD4):c.1292A>C (p.Lys431Thr)
NM_001429.4(EP300):c.1143C>G (p.His381Gln) rs2145710465
NM_001429.4(EP300):c.3135_3138del (p.Lys1046fs) rs2059051273
NM_001429.4(EP300):c.5092A>T (p.Thr1698Ser) rs549834848
NM_001429.4(EP300):c.5249A>G (p.Asn1750Ser) rs2145515265
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.7070_7096dup (p.Asn2357_Ala2365dup) rs2059220245
NM_001429.4(EP300):c.749C>G (p.Pro250Arg) rs2058879222
NM_002334.4(LRP4):c.1894C>T (p.Arg632Cys) rs1941393359
NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp) rs886048351
NM_002653.5(PITX1):c.87del (p.Ala30fs) rs2149562896
NM_003282.4(TNNI2):c.530T>C (p.Met177Thr) rs1847183050
NM_003289.4(TPM2):c.463G>A (p.Ala155Thr) rs1563929039
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter) rs996949678
NM_004247.4(EFTUD2):c.1425G>C (p.Met475Ile) rs2050683099
NM_004247.4(EFTUD2):c.1957A>C (p.Ile653Leu) rs2050609262
NM_004247.4:c.(350+1_351-1)_(492+1_493-1)del
NM_004380.3(CREBBP):c.2530C>T (p.Pro844Ser) rs2052990480
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu) rs1596791996
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg) rs2051906390
NM_004380.3(CREBBP):c.5763C>G (p.Phe1921Leu) rs2051845365
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_004826.4(ECEL1):c.1253G>A (p.Arg418His)
NM_004826.4(ECEL1):c.1531G>A (p.Gly511Ser)
NM_005445.4(SMC3):c.2056GAA[2] (p.Glu688del) rs755507236
NM_005445.4(SMC3):c.3007C>T (p.Arg1003Cys) rs1861395935
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val) rs901512521
NM_005445.4(SMC3):c.707G>A (p.Arg236His)
NM_005850.5(SF3B4):c.417C>T (p.Gly139=)
NM_006265.3(RAD21):c.273A>G (p.Pro91=) rs1812624997
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter) rs2075652085
NM_006757.4(TNNT3):c.524AGA[2] (p.Lys177del) rs765275660
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_014489.4(PGAP2):c.146C>T (p.Thr49Ile)
NM_014489.4(PGAP2):c.479A>G (p.Tyr160Cys) rs879255232
NM_014489.4(PGAP2):c.737G>T (p.Arg246Leu)
NM_015425.6(POLR1A):c.1967T>C (p.Leu656Pro) rs1673068500
NM_018684.4(ZC4H2):c.561+7G>A rs1929057022
NM_020436.5(SALL4):c.131-2del rs1568866374
NM_020436.5(SALL4):c.2422A>G (p.Lys808Glu) rs2078023413
NM_020639.3(RIPK4):c.722G>A (p.Arg241His) rs891831110
NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer) rs397518432
NM_130468.4(CHST14):c.458A>G (p.Tyr153Cys) rs1894349669
NM_133433.4(NIPBL):c.1285C>G (p.Leu429Val) rs1743429461
NM_133433.4(NIPBL):c.1717T>C (p.Cys573Arg) rs1744567400
NM_133433.4(NIPBL):c.1925C>T (p.Thr642Ile) rs1744597297
NM_133433.4(NIPBL):c.3527A>G (p.Glu1176Gly) rs1275880743
NM_133433.4(NIPBL):c.3928G>A (p.Ala1310Thr) rs2149676816
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.8370del (p.Thr2791fs) rs1755229121
NM_153717.3(EVC):c.801+1G>T
NM_181789.4(GLDN):c.1423G>C (p.Ala475Pro) rs764239923
NM_182961.4(SYNE1):c.16984C>A (p.Arg5662Ser) rs145899734
NM_182961.4(SYNE1):c.17187G>C (p.Gln5729His) rs1262683167
NM_182961.4(SYNE1):c.8769G>T (p.Met2923Ile) rs2097408369

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