ClinVar Miner

List of variants reported as uncertain significance for congenital limb malformation by New York Genome Center

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_033419.5(PGAP3):c.*559C>T rs183208638 0.00300
NM_017837.4(PIGV):c.349A>G (p.Ile117Val) rs142192097 0.00097
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp) rs147098410 0.00040
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val) rs369459749 0.00009
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr) rs760428640 0.00006
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) rs749249146 0.00004
NM_032444.4(SLX4):c.5177C>T (p.Ala1726Val) rs752633436 0.00004
NM_133433.4(NIPBL):c.1847G>A (p.Ser616Asn) rs371073215 0.00004
NM_001429.4(EP300):c.7082A>G (p.Gln2361Arg) rs1263635747 0.00003
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile) rs149439295 0.00003
NM_001374353.1(GLI2):c.1906-4G>A rs373446304 0.00002
NM_001378183.1(PIEZO2):c.71C>T (p.Ala24Val) rs759000106 0.00002
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=) rs370689343 0.00002
NM_015874.6(RBPJ):c.1375G>A (p.Glu459Lys) rs200349793 0.00002
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg) rs762809955 0.00001
NM_001374353.1(GLI2):c.1183-54C>T rs1682377263 0.00001
NM_001429.4(EP300):c.3884C>G (p.Ser1295Cys) rs772897576 0.00001
NM_002653.5(PITX1):c.158C>T (p.Thr53Met) rs777634577 0.00001
NM_004247.4(EFTUD2):c.1994C>T (p.Thr665Met) rs2050571775 0.00001
NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys) rs773159964 0.00001
NM_005445.4(SMC3):c.1580A>G (p.His527Arg) rs756254563 0.00001
NM_005850.5(SF3B4):c.716C>T (p.Pro239Leu) rs1553765987 0.00001
NM_015874.6(RBPJ):c.50G>A (p.Arg17Gln) rs369569682 0.00001
NM_032444.4(SLX4):c.4096C>T (p.Arg1366Cys) rs368434737 0.00001
NM_032634.4(PIGO):c.1256C>T (p.Ala419Val) rs777439274 0.00001
NM_133433.4(NIPBL):c.-79-11559C>T rs1436464402 0.00001
NM_000474.4(TWIST1):c.518del (p.Ala173fs) rs2115396502
NM_001164508.2(NEB):c.24850G>A (p.Glu8284Lys)
NM_001374353.1(GLI2):c.198G>A (p.Met66Ile) rs2104869716
NM_001374353.1(GLI2):c.3810A>C (p.Glu1270Asp) rs2105094470
NM_001374353.1(GLI2):c.56T>A (p.Ile19Asn) rs750880487
NM_001378183.1(PIEZO2):c.7037T>G (p.Phe2346Cys)
NM_001429.4(EP300):c.2960C>T (p.Pro987Leu) rs2145740050
NM_001429.4(EP300):c.301G>A (p.Gly101Ser) rs762557708
NM_001429.4(EP300):c.3893T>G (p.Leu1298Arg) rs2145762737
NM_001429.4(EP300):c.7225A>C (p.Ser2409Arg) rs748325077
NM_001999.4(FBN2):c.6620C>T (p.Thr2207Ile)
NM_002968.3(SALL1):c.424G>C (p.Gly142Arg) rs553871743
NM_004247.4(EFTUD2):c.63A>T (p.Glu21Asp) rs2051340680
NM_004247.4(EFTUD2):c.698A>G (p.Glu233Gly) rs2145532453
NM_004380.3(CREBBP):c.1941+8G>A rs761673254
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn) rs2052155279
NM_004380.3(CREBBP):c.5844_5846dup (p.Ala1949dup) rs2151307787
NM_004380.3(CREBBP):c.6559C>T (p.Pro2187Ser) rs2151303211
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu) rs781438241
NM_004380.3(CREBBP):c.878T>A (p.Val293Glu) rs1239213391
NM_005445.4(SMC3):c.2783G>A (p.Arg928Gln) rs2134752688
NM_006265.3(RAD21):c.1143G>C (p.Trp381Cys) rs2130462808
NM_017617.5(NOTCH1):c.6157A>C (p.Asn2053His) rs1474607963
NM_018486.3(HDAC8):c.738-1619G>A rs2148050178
NM_133433.4(NIPBL):c.1229T>C (p.Ile410Thr) rs546539357
NM_133433.4(NIPBL):c.2246A>C (p.Gln749Pro) rs1178033980
NM_133433.4(NIPBL):c.5115T>C (p.His1705=) rs2149696602

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