ClinVar Miner

List of variants studied for cerebellar ataxia by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_014687.4(RUBCN):c.397C>T (p.His133Tyr) rs201876836 0.00048
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu) rs1467772045 0.00002
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) rs774694340 0.00001
NM_000924.4(PDE1B):c.256C>T (p.Gln86Ter)
NM_000924.4(PDE1B):c.735+5G>A
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001306089.2(ZNF236):c.700A>G (p.Lys234Glu) rs2122623348
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser) rs1559671950
NM_001378452.1(ITPR1):c.7784G>A (p.Gly2595Glu) rs869312685
NM_006289.4(TLN1):c.2176dup (p.Thr726fs)
NM_014687.4(RUBCN):c.1464C>A (p.Asp488Glu)
NM_015215.4(CAMTA1):c.3356C>T (p.Ala1119Val) rs1577305812
NM_152221.3(CSNK1E):c.532C>T (p.Arg178Cys)
NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs) rs1057519561
NR_002717.2:n.894CTA[(3)]CTG[(317_330)]

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