ClinVar Miner

List of variants studied for autosomal recessive degenerative and progressive cerebellar ataxia by OMIM

Included ClinVar conditions (10):
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_000144.5(FXN):c.389G>T (p.Gly130Val) rs104894107 0.00004
NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp) rs267606820 0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_000144.5(FXN):c.3G>T (p.Met1Ile) rs104894108 0.00001
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile) rs80356544 0.00001
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr) rs80356542 0.00001
NG_008845.2:g.6725GAA[(200_900)]
NM_000144.5(FXN):c.157del (p.Arg53fs) rs141935559
NM_000144.5(FXN):c.317T>G (p.Leu106Ter) rs104894105
NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr) rs886037630
NM_000144.5(FXN):c.385-2A>G rs140987490
NM_000144.5(FXN):c.460A>T (p.Ile154Phe) rs104894106
NM_000144.5(FXN):c.517T>G (p.Trp173Gly) rs56214919
NM_004715.5(CTDP1):c.863+389C>T rs113994102
NM_014053.4(FLVCR1):c.1477G>C (p.Gly493Arg) rs1558121050
NM_014053.4(FLVCR1):c.721G>A (p.Ala241Thr) rs267606819
NM_022464.5(SIL1):c.1029+1G>A
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter) rs119456966
NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro)
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)
NM_022464.5(SIL1):c.506_509dup (p.Asp170fs)
NM_022464.5(SIL1):c.603_607del (p.Glu201fs)
NM_022464.5(SIL1):c.645+1G>A
NM_022464.5(SIL1):c.645+2T>C
NM_022464.5(SIL1):c.936dup (p.Leu313fs)
NM_022464.5:c.454-6721_768-23561del
NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]
NR_002717.2(ATXN8OS):n.1103CTG[15_40]

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