ClinVar Miner

List of variants studied for neuroacanthocytosis by OMIM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs) rs779746050 0.00008
NM_001386393.1(PANK2):c.1112_1114del (p.Arg371_Glu372delinsGln) rs766251466 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002
NM_001386393.1(PANK2):c.1083-1G>T rs148987163 0.00001
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter) rs137852968 0.00001
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys) rs1555787646 0.00001
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala) rs137852965 0.00001
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp) rs137852961 0.00001
NM_001386393.1(PANK2):c.502C>T (p.Arg168Cys) rs137852966 0.00001
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys) rs137852962 0.00001
NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter) rs119477053 0.00001
NC_000009.12:g.77390734_77428010del
NG_008931.2:g.(188110_192927)_(194341_195522)del
NG_008931.2:g.(?_87553)_(87693_?)del
NM_001271604.4(JPH3):c.431CWG[41_?]
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn) rs137852963
NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter) rs137852969
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter) rs137852960
NM_001386393.1(PANK2):c.600_606del (p.Phe201fs) rs879253712
NM_001386393.1(PANK2):c.721T>C (p.Ser241Pro) rs137852964
NM_001386393.1(PANK2):c.980T>C (p.Met327Thr) rs28939088
NM_021083.4(XK):c.1013del (p.Phe338fs) rs1602159120
NM_021083.4(XK):c.508+1G>A rs1602145991
NM_021083.4(XK):c.509-1G>A rs1602158863
NM_021083.4(XK):c.880T>C (p.Cys294Arg) rs28933690
NM_021083.4(XK):c.895C>T (p.Gln299Ter) rs104894954
NM_021083.4(XK):c.938_951del (p.Asn313fs) rs2146834690
NM_021083.4(XK):c.941G>A (p.Trp314Ter) rs104894953
NM_033305.3(VPS13A):c.1305G>A (p.Trp435Ter) rs761923202
NM_033305.3(VPS13A):c.269T>A (p.Ile90Lys) rs119477052
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs) rs781242821
NM_033305.3(VPS13A):c.8035G>A (p.Ala2679Thr) rs1587653832
XK, 1-BP DEL

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