ClinVar Miner

List of variants in gene ATP1A2, LOC126805890 studied for Familial hemiplegic migraine

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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.627T>C (p.Cys209=) rs139229302 0.00005
NM_000702.4(ATP1A2):c.537C>T (p.Asn179=) rs759406149 0.00003
NM_000702.4(ATP1A2):c.705G>A (p.Leu235=) rs1019036534 0.00003
NM_000702.4(ATP1A2):c.589G>A (p.Val197Ile) rs540087535 0.00002
NM_000702.4(ATP1A2):c.736A>G (p.Asn246Asp) rs764917849 0.00002
NM_000702.4(ATP1A2):c.513G>A (p.Arg171=) rs770882300 0.00001
NM_000702.4(ATP1A2):c.529C>A (p.Gln177Lys) rs372536727 0.00001
NM_000702.4(ATP1A2):c.586C>T (p.Arg196Cys) rs753517155 0.00001
NM_000702.4(ATP1A2):c.588C>T (p.Arg196=) rs533663836 0.00001
NM_000702.4(ATP1A2):c.591C>T (p.Val197=) rs149251047 0.00001
NM_000702.4(ATP1A2):c.673C>T (p.Arg225Cys) rs757623691 0.00001
NM_000702.4(ATP1A2):c.681C>T (p.Pro227=) rs771930383 0.00001
NM_000702.4(ATP1A2):c.741T>C (p.Cys247=) rs371882060 0.00001
NM_000702.4(ATP1A2):c.748+3G>A rs767929498 0.00001
NM_000702.4(ATP1A2):c.496-11G>T rs1287709502
NM_000702.4(ATP1A2):c.496-14G>A
NM_000702.4(ATP1A2):c.496-14G>T rs529912799
NM_000702.4(ATP1A2):c.496-15T>C rs1057522605
NM_000702.4(ATP1A2):c.496-1G>A rs773117459
NM_000702.4(ATP1A2):c.496-5C>G rs1651512608
NM_000702.4(ATP1A2):c.496C>A (p.Gln166Lys)
NM_000702.4(ATP1A2):c.507G>A (p.Val169=)
NM_000702.4(ATP1A2):c.511C>T (p.Arg171Trp)
NM_000702.4(ATP1A2):c.512G>A (p.Arg171Gln) rs1553244392
NM_000702.4(ATP1A2):c.520G>A (p.Glu174Lys)
NM_000702.4(ATP1A2):c.524del (p.Lys175fs)
NM_000702.4(ATP1A2):c.528G>T (p.Met176Ile) rs867416764
NM_000702.4(ATP1A2):c.534C>A (p.Ile178=)
NM_000702.4(ATP1A2):c.544G>A (p.Glu182Lys)
NM_000702.4(ATP1A2):c.547G>T (p.Val183Leu)
NM_000702.4(ATP1A2):c.553G>T (p.Val185Leu)
NM_000702.4(ATP1A2):c.554T>C (p.Val185Ala)
NM_000702.4(ATP1A2):c.567G>A (p.Val189=) rs1651515024
NM_000702.4(ATP1A2):c.568G>A (p.Glu190Lys)
NM_000702.4(ATP1A2):c.573G>A (p.Val191=)
NM_000702.4(ATP1A2):c.580G>T (p.Gly194Ter)
NM_000702.4(ATP1A2):c.582A>T (p.Gly194=)
NM_000702.4(ATP1A2):c.592C>A (p.Pro198Thr)
NM_000702.4(ATP1A2):c.600C>T (p.Asp200=) rs1060504129
NM_000702.4(ATP1A2):c.604C>T (p.Arg202Trp) rs1219118149
NM_000702.4(ATP1A2):c.605G>A (p.Arg202Gln)
NM_000702.4(ATP1A2):c.607A>C (p.Ile203Leu) rs1259959010
NM_000702.4(ATP1A2):c.617C>A (p.Ser206Tyr)
NM_000702.4(ATP1A2):c.619C>T (p.His207Tyr) rs1057523810
NM_000702.4(ATP1A2):c.621T>A (p.His207Gln) rs1048175233
NM_000702.4(ATP1A2):c.623G>A (p.Gly208Asp)
NM_000702.4(ATP1A2):c.630+6G>A
NM_000702.4(ATP1A2):c.631-10_631-4del
NM_000702.4(ATP1A2):c.631-14T>C rs371081594
NM_000702.4(ATP1A2):c.631-14T>G
NM_000702.4(ATP1A2):c.631-16A>G rs571618030
NM_000702.4(ATP1A2):c.631-16A>T rs571618030
NM_000702.4(ATP1A2):c.631-17C>A rs368195019
NM_000702.4(ATP1A2):c.631-17C>T rs368195019
NM_000702.4(ATP1A2):c.631-18G>A
NM_000702.4(ATP1A2):c.631-9C>T rs1194833342
NM_000702.4(ATP1A2):c.633G>A (p.Val211=) rs1054187251
NM_000702.4(ATP1A2):c.641C>T (p.Ser214Leu)
NM_000702.4(ATP1A2):c.642A>T (p.Ser214=)
NM_000702.4(ATP1A2):c.650C>T (p.Thr217Ile)
NM_000702.4(ATP1A2):c.654A>C (p.Gly218=)
NM_000702.4(ATP1A2):c.659C>T (p.Ser220Leu)
NM_000702.4(ATP1A2):c.660G>A (p.Ser220=) rs564452950
NM_000702.4(ATP1A2):c.660G>C (p.Ser220=)
NM_000702.4(ATP1A2):c.664C>T (p.Pro222Ser) rs1570986069
NM_000702.4(ATP1A2):c.666C>G (p.Pro222=)
NM_000702.4(ATP1A2):c.671C>A (p.Thr224Asn)
NM_000702.4(ATP1A2):c.672C>A (p.Thr224=) rs1309171467
NM_000702.4(ATP1A2):c.672C>G (p.Thr224=)
NM_000702.4(ATP1A2):c.674G>A (p.Arg225His) rs778741638
NM_000702.4(ATP1A2):c.682G>A (p.Glu228Lys)
NM_000702.4(ATP1A2):c.685T>G (p.Phe229Val) rs1651546645
NM_000702.4(ATP1A2):c.694G>C (p.Glu232Gln) rs775220854
NM_000702.4(ATP1A2):c.699C>T (p.Asn233=) rs1258932331
NM_000702.4(ATP1A2):c.712C>T (p.Arg238Cys) rs1558004341
NM_000702.4(ATP1A2):c.719T>A (p.Ile240Asn) rs1651548209
NM_000702.4(ATP1A2):c.720_721del (p.Ile240fs) rs2101986777
NM_000702.4(ATP1A2):c.728T>A (p.Phe243Tyr) rs1651548339
NM_000702.4(ATP1A2):c.736_739del (p.Asn246fs) rs1651548761
NM_000702.4(ATP1A2):c.742G>T (p.Val248Phe) rs1651549443
NM_000702.4(ATP1A2):c.744T>C (p.Val248=)
NM_000702.4(ATP1A2):c.748+16G>T
NM_000702.4(ATP1A2):c.748+18C>T rs1311948495
NM_000702.4(ATP1A2):c.748+1G>C
NM_000702.4(ATP1A2):c.748+20C>G
NM_000702.4(ATP1A2):c.748+21dup
NM_000702.4(ATP1A2):c.748+3G>T

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