ClinVar Miner

List of variants reported as benign for ataxia neuropathy spectrum by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_198859.4(PRICKLE2):c.259-6A>G rs2306380 0.35289
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=) rs34460293 0.06381
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=) rs116353694 0.01695
NM_198859.4(PRICKLE2):c.144+10T>C rs74535153 0.00794
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=) rs144455095 0.00228
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=) rs146538069 0.00190
NM_198859.4(PRICKLE2):c.1035C>G (p.Gly345=) rs34084584 0.00151
NM_198859.4(PRICKLE2):c.788-6T>C rs180903875 0.00143
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile) rs139747674 0.00120
NM_198859.4(PRICKLE2):c.438G>A (p.Ala146=) rs149786687 0.00113
NM_198859.4(PRICKLE2):c.145-4T>G rs375489210 0.00073
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=) rs144338942 0.00023
NM_198859.4(PRICKLE2):c.1962G>A (p.Leu654=) rs367685080 0.00019
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=) rs200220646 0.00014
NM_198859.4(PRICKLE2):c.1395C>T (p.Ile465=) rs759852197 0.00010
NM_198859.4(PRICKLE2):c.267T>C (p.Tyr89=) rs199642985 0.00009
NM_198859.4(PRICKLE2):c.636G>A (p.Gly212=) rs567814417 0.00001
NM_198859.4(PRICKLE2):c.6G>A (p.Val2=) rs201779407 0.00001
NM_198859.4(PRICKLE2):c.258+8del

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