ClinVar Miner

List of variants studied for cerebellar disorder by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) rs149685738 0.00084
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val) rs144370288 0.00048
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_152703.5(SAMD9L):c.1549T>C (p.Trp517Arg) rs199714577 0.00022
NM_003640.5(ELP1):c.2498A>C (p.His833Pro) rs201714373 0.00012
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln) rs139091484 0.00011
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys) rs758924768 0.00010
NM_152703.5(SAMD9L):c.4508C>T (p.Thr1503Ile) rs372802865 0.00008
NM_003640.5(ELP1):c.2578G>A (p.Glu860Lys) rs137983175 0.00007
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr) rs61749203 0.00006
NM_020975.6(RET):c.604G>A (p.Val202Met) rs751572082 0.00006
NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala) rs1286140759 0.00004
NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala) rs148548795 0.00004
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys) rs201844078 0.00004
NM_152703.5(SAMD9L):c.483G>T (p.Leu161Phe) rs375402434 0.00004
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met) rs376671881 0.00003
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092 0.00003
NM_003640.5(ELP1):c.3889A>G (p.Met1297Val) rs769146127 0.00003
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter) rs926177767 0.00003
NM_003640.5(ELP1):c.1672A>G (p.Ile558Val) rs772705478 0.00002
NM_003640.5(ELP1):c.2390A>G (p.Tyr797Cys) rs1181862976 0.00002
NM_003640.5(ELP1):c.382A>G (p.Thr128Ala) rs774585995 0.00002
NM_152703.5(SAMD9L):c.2387T>G (p.Ile796Ser) rs774643105 0.00002
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser) rs754507551 0.00001
NM_001375883.1(GPR161):c.1196A>G (p.Gln399Arg) rs1412562086 0.00001
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter) rs761911009 0.00001
NM_003640.5(ELP1):c.2951A>G (p.Gln984Arg) rs371186754 0.00001
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His) rs769611275 0.00001
NM_000264.5(PTCH1):c.2244del (p.Ala749fs) rs1564032829
NM_001375883.1(GPR161):c.1231T>C (p.Tyr411His)
NM_001375883.1(GPR161):c.1235C>T (p.Thr412Met)
NM_001375883.1(GPR161):c.1445A>C (p.Glu482Ala)
NM_001375883.1(GPR161):c.1502del (p.Gly501fs) rs766670512
NM_001375883.1(GPR161):c.505G>A (p.Val169Met)
NM_001375883.1(GPR161):c.682G>T (p.Val228Phe)
NM_001375883.1(GPR161):c.713G>C (p.Gly238Ala)
NM_003640.5(ELP1):c.1220C>A (p.Thr407Asn)
NM_003640.5(ELP1):c.1456T>C (p.Tyr486His)
NM_003640.5(ELP1):c.14A>G (p.Lys5Arg)
NM_003640.5(ELP1):c.1587C>A (p.His529Gln)
NM_003640.5(ELP1):c.2129A>G (p.Gln710Arg)
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003640.5(ELP1):c.3433A>G (p.Lys1145Glu)
NM_003640.5(ELP1):c.3769A>G (p.Lys1257Glu)
NM_003640.5(ELP1):c.3840G>C (p.Gln1280His)
NM_003640.5(ELP1):c.641del (p.Pro214fs) rs759412460
NM_003640.5(ELP1):c.85G>A (p.Glu29Lys) rs977172542
NM_152703.5(SAMD9L):c.1679T>G (p.Leu560Arg)
NM_152703.5(SAMD9L):c.1766G>A (p.Arg589Gln)
NM_152703.5(SAMD9L):c.227A>G (p.Asn76Ser) rs1792419152
NM_152703.5(SAMD9L):c.308dup (p.Asn103fs) rs758545647
NM_152703.5(SAMD9L):c.3260C>T (p.Ala1087Val)
NM_152703.5(SAMD9L):c.3483A>T (p.Arg1161Ser) rs1477737151
NM_152703.5(SAMD9L):c.3563G>A (p.Arg1188Gln)
NM_152703.5(SAMD9L):c.3892C>G (p.Arg1298Gly) rs368520824

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