ClinVar Miner

List of variants studied for autosomal recessive congenital cerebellar ataxia by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter) rs755133567 0.00001
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) rs372012542
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro) rs1583187059
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
NM_003383.5(VLDLR):c.1374del (p.Glu460fs) rs1586653366
NM_003383.5(VLDLR):c.1962+2T>C rs1563764078
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter) rs1593576872
NM_017777.4(MKS1):c.959-5C>A rs765242131
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs) rs1589611043
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_033064.5(ATCAY):c.552C>G (p.Tyr184Ter)

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