ClinVar Miner

List of variants reported as uncertain significance for cerebellar disorder by New York Genome Center

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_144992.5(VWA3B):c.544G>A (p.Val182Ile) rs367870902 0.00053
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu) rs146045390 0.00049
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro) rs149405514 0.00015
NM_018896.5(CACNA1G):c.6958G>T (p.Gly2320Cys) rs760308715 0.00014
NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val) rs202061089 0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu) rs372018476 0.00012
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836 0.00011
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_001080453.3(INTS1):c.3679G>C (p.Glu1227Gln) rs758158889 0.00010
NM_007254.4(PNKP):c.1298+6G>A rs578207030 0.00010
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_014363.6(SACS):c.110G>A (p.Arg37His) rs866539724 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_001386140.1(MTTP):c.501+8C>T rs773537875 0.00004
NM_004977.3(KCNC3):c.751G>A (p.Gly251Ser) rs953647148 0.00004
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) rs139124415 0.00004
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_001001344.3(ATP2B3):c.2105G>A (p.Arg702His) rs782587313 0.00003
NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys) rs928788426 0.00003
NM_015215.4(CAMTA1):c.439-60758C>T rs997317904 0.00003
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys) rs201476674 0.00003
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser) rs764079993 0.00003
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met) rs767779223 0.00002
NM_001386140.1(MTTP):c.1391C>A (p.Ala464Glu) rs756155398 0.00002
NM_015215.4(CAMTA1):c.1618G>A (p.Glu540Lys) rs200732212 0.00002
NM_017777.4(MKS1):c.1613G>A (p.Arg538His) rs557678962 0.00002
NM_018896.5(CACNA1G):c.6656C>T (p.Thr2219Met) rs1433017716 0.00002
NM_152703.5(SAMD9L):c.2387T>G (p.Ile796Ser) rs774643105 0.00002
NM_001080453.3(INTS1):c.616G>C (p.Val206Leu) rs370240975 0.00001
NM_001163809.2(WDR81):c.5179+6C>T rs748777672 0.00001
NM_001378452.1(ITPR1):c.3199G>A (p.Gly1067Ser) rs776099053 0.00001
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser) rs368711749 0.00001
NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys) rs145702618 0.00001
NM_015215.4(CAMTA1):c.2003C>A (p.Ser668Tyr) rs2095986041 0.00001
NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg) rs181022346 0.00001
NM_016529.6(ATP8A2):c.1976G>A (p.Arg659Gln) rs566960742 0.00001
NM_017777.4(MKS1):c.791C>T (p.Thr264Met) rs561482424 0.00001
NM_018896.5(CACNA1G):c.6769C>T (p.Arg2257Trp) rs1444290546 0.00001
NM_025114.4(CEP290):c.2068A>C (p.Asn690His) rs398124411 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp) rs753760503 0.00001
NM_144992.5(VWA3B):c.2243A>G (p.Asn748Ser) rs1037456370 0.00001
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr) rs782744167 0.00001
NM_001080414.4(CCDC88C):c.3404A>G (p.Gln1135Arg) rs1407640264
NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)
NM_001127222.2(CACNA1A):c.3090-5C>T rs976595665
NM_001130823.3(DNMT1):c.4136G>A (p.Arg1379Gln) rs2145258691
NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu) rs150798889
NM_001378452.1(ITPR1):c.1127G>C (p.Arg376Pro) rs1260045423
NM_001378452.1(ITPR1):c.4243A>T (p.Ile1415Phe) rs762136714
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys) rs1716561509
NM_001386140.1(MTTP):c.1139A>T (p.Asp380Val)
NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met)
NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn)
NM_001961.4(EEF2):c.949_950delinsAG (p.Glu317Arg) rs2145362551
NM_006946.4(SPTBN2):c.5056C>G (p.Arg1686Gly) rs368373337
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr) rs762175796
NM_015215.4(CAMTA1):c.2867C>T (p.Ala956Val)
NM_015215.4(CAMTA1):c.4990-3503A>C rs2150309041
NM_015215.4(CAMTA1):c.809C>T (p.Ala270Val) rs2149152505
NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr)
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
NM_017777.4(MKS1):c.418-79G>T
NM_017777.4(MKS1):c.811C>A (p.His271Asn) rs201771125
NM_017777.4(MKS1):c.955G>A (p.Val319Ile) rs1393510784
NM_018896.5(CACNA1G):c.5906T>C (p.Leu1969Pro) rs1312607495
NM_025114.4(CEP290):c.1624-5T>G rs142742071
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe) rs2038674474
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=) rs764861728
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]
NM_152703.5(SAMD9L):c.-779+181T>C rs1792903463
NM_152703.5(SAMD9L):c.2052A>C (p.Glu684Asp) rs1792278396
NM_198994.3(TGM6):c.1179G>A (p.Ala393=)

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