ClinVar Miner

List of variants studied for autosomal recessive degenerative and progressive cerebellar ataxia by Revvity Omics, Revvity

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_022464.5(SIL1):c.310C>G (p.Leu104Val) rs150892227 0.00018
NM_022464.5(SIL1):c.103C>G (p.Leu35Val) rs759591537 0.00011
NM_022464.5(SIL1):c.724G>A (p.Val242Met) rs545999438 0.00010
NM_022464.5(SIL1):c.1022C>T (p.Thr341Met) rs372399027 0.00008
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu) rs758618193 0.00006
NM_022464.5(SIL1):c.1030-9G>A rs370290043 0.00006
NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro) rs563414935 0.00004
NM_022464.5(SIL1):c.623A>C (p.Asp208Ala) rs145709743 0.00004
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=) rs1391075754 0.00001
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
NM_022464.5(SIL1):c.-10-18951A>G
NM_022464.5(SIL1):c.1031T>C (p.Met344Thr)
NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr) rs377150029
NM_022464.5(SIL1):c.1036G>C (p.Ala346Pro)
NM_022464.5(SIL1):c.1094G>A (p.Arg365His)
NM_022464.5(SIL1):c.1099G>A (p.Val367Ile)
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)
NM_022464.5(SIL1):c.1168G>C (p.Glu390Gln)
NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys)
NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly)
NM_022464.5(SIL1):c.1237C>T (p.Arg413Cys)
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter)
NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser) rs398124389
NM_022464.5(SIL1):c.1261A>G (p.Thr421Ala)
NM_022464.5(SIL1):c.1330G>T (p.Gly444Cys)
NM_022464.5(SIL1):c.1342G>A (p.Glu448Lys)
NM_022464.5(SIL1):c.1364G>A (p.Ser455Asn)
NM_022464.5(SIL1):c.175G>A (p.Glu59Lys)
NM_022464.5(SIL1):c.181G>A (p.Glu61Lys)
NM_022464.5(SIL1):c.185T>A (p.Leu62Gln)
NM_022464.5(SIL1):c.193G>A (p.Glu65Lys)
NM_022464.5(SIL1):c.215C>T (p.Pro72Leu)
NM_022464.5(SIL1):c.218C>T (p.Thr73Met)
NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)
NM_022464.5(SIL1):c.31A>G (p.Met11Val)
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)
NM_022464.5(SIL1):c.388G>A (p.Asp130Asn)
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
NM_022464.5(SIL1):c.432G>T (p.Met144Ile)
NM_022464.5(SIL1):c.475C>T (p.Arg159Trp)
NM_022464.5(SIL1):c.476G>A (p.Arg159Gln)
NM_022464.5(SIL1):c.484C>T (p.Arg162Cys)
NM_022464.5(SIL1):c.526G>T (p.Val176Phe)
NM_022464.5(SIL1):c.550A>G (p.Ile184Val)
NM_022464.5(SIL1):c.559C>T (p.Arg187Trp)
NM_022464.5(SIL1):c.635A>G (p.Tyr212Cys)
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
NM_022464.5(SIL1):c.653A>G (p.Asn218Ser)
NM_022464.5(SIL1):c.674T>C (p.Phe225Ser)
NM_022464.5(SIL1):c.697A>G (p.Asn233Asp)
NM_022464.5(SIL1):c.754G>A (p.Ala252Thr)
NM_022464.5(SIL1):c.766A>G (p.Ser256Gly)
NM_022464.5(SIL1):c.82T>C (p.Phe28Leu)
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)

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