ClinVar Miner

List of variants studied for polydactyly-syndactyly-triphalangism by Genome-Nilou Lab

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_006486.3(FBLN1):c.422A>G (p.Gln141Arg) rs136730 0.99862
NM_002334.4(LRP4):c.1623T>C (p.Asp541=) rs10769215 0.99630
NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile) rs4614723 0.98884
NM_002334.4(LRP4):c.1638A>G (p.Lys546=) rs10838631 0.98127
NM_000168.6(GLI3):c.1356+11G>C rs846273 0.97240
NM_001378615.1(CC2D2A):c.4065+28A>T rs6832789 0.95451
NM_152515.5(CKAP2L):c.1123A>G (p.Ile375Val) rs6731822 0.94819
NM_025114.4(CEP290):c.6645+67G>A rs2471512 0.92687
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_001378615.1(CC2D2A):c.247+26A>G rs10000250 0.85216
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_015272.5(RPGRIP1L):c.1104-82C>T rs4133017 0.80982
NM_005631.5(SMO):c.1164G>C (p.Gly388=) rs2228617 0.78614
NM_005631.5(SMO):c.1264+41A>G rs2735842 0.78562
NM_005631.5(SMO):c.538-26C>T rs2703091 0.78431
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_001378615.1(CC2D2A):c.1764+45T>G rs1558572 0.75139
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_001378615.1(CC2D2A):c.3595-55C>G rs4280723 0.69017
NM_001378615.1(CC2D2A):c.3288+41A>C rs13116304 0.68417
NM_005269.3(GLI1):c.3298G>C (p.Glu1100Gln) rs2228226 0.68037
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_198525.3(KIF7):c.1788+13T>C rs1110060 0.59982
NM_198525.3(KIF7):c.3112-11_3112-10insCT rs35820949 0.57089
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_198525.3(KIF7):c.2896-14G>A rs9672296 0.53577
NM_001378615.1(CC2D2A):c.1765-24A>G rs1861044 0.52969
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val) rs6485702 0.50674
NM_002968.3(SALL1):c.2574C>T (p.Leu858=) rs1965024 0.50381
NM_005269.3(GLI1):c.2798G>A (p.Gly933Asp) rs2228224 0.47688
NM_005269.3(GLI1):c.576G>A (p.Glu192=) rs2228225 0.47502
NM_000523.4(HOXD13):c.204G>A (p.Ala68=) rs2518053 0.43768
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly) rs2306029 0.42236
NM_152515.5(CKAP2L):c.1841T>C (p.Leu614Ser) rs3811040 0.39395
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319 0.37955
NM_001164405.2(BHLHA9):c.237A>G (p.Leu79=) rs3951819 0.33804
NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) rs929387 0.31467
NM_001378615.1(CC2D2A):c.3595-22C>T rs4280724 0.26375
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_198525.3(KIF7):c.3319-30A>C rs72750748 0.24857
NM_015272.5(RPGRIP1L):c.1401+127A>G rs7192060 0.22379
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_002968.3(SALL1):c.3456C>T (p.His1152=) rs11645288 0.19907
NM_015272.5(RPGRIP1L):c.3432+67G>A rs113961478 0.19784
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_001378615.1(CC2D2A):c.2182-24C>T rs2041673 0.13698
NM_001378615.1(CC2D2A):c.2830-38G>T rs35309200 0.12892
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_002334.4(LRP4):c.1309+24G>A rs3751097 0.08895
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_015272.5(RPGRIP1L):c.530-29G>A rs74393433 0.04932
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys) rs1003579700 0.00001
NM_017777.4(MKS1):c.728C>T (p.Thr243Met) rs749668169 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp) rs886043119 0.00001
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3:c.432-11_432-10insA
NM_001378615.1(CC2D2A):c.40-122A>C rs9993580
NM_002334.4(LRP4):c.3536+22C>A rs964551
NM_002334.4(LRP4):c.3700-21C>G rs2306032
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln) rs3816614
NM_005631.5(SMO):c.747+24G>C rs2075777
NM_006486.3(FBLN1):c.963C>T (p.Ile321=) rs9682
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile) rs2034578914
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys) rs2034330893
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066

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