ClinVar Miner

List of variants in gene ANK2 studied for Inborn genetic diseases

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu) rs186264035 0.00009
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys) rs180843436 0.00005
NM_001148.6(ANK2):c.11516G>C (p.Ser3839Thr) rs148654834 0.00004
NM_001148.6(ANK2):c.10147G>A (p.Ala3383Thr) rs374257100 0.00003
NM_001148.6(ANK2):c.693+6G>A rs565218126 0.00003
NM_001148.6(ANK2):c.8105A>G (p.Asn2702Ser) rs748404965 0.00002
NM_001148.6(ANK2):c.10520G>A (p.Ser3507Asn) rs760127428 0.00001
NM_001148.6(ANK2):c.10660A>T (p.Asn3554Tyr) rs758868149 0.00001
NM_001148.6(ANK2):c.11761C>T (p.Gln3921Ter) rs768327292 0.00001
NM_001148.6(ANK2):c.2684G>A (p.Arg895Gln) rs751513548 0.00001
NM_001148.6(ANK2):c.3125+6G>A rs763791737 0.00001
NM_001148.6(ANK2):c.3292C>T (p.Arg1098Cys) rs754235325 0.00001
NM_001148.6(ANK2):c.4371+5C>T rs891690526 0.00001
NM_001148.6(ANK2):c.827G>A (p.Arg276Lys) rs786205719 0.00001
NM_001148.6(ANK2):c.8741C>T (p.Ala2914Val) rs772241625 0.00001
NM_001148.6(ANK2):c.10142G>A (p.Ser3381Asn)
NM_001148.6(ANK2):c.10277T>C (p.Leu3426Ser)
NM_001148.6(ANK2):c.10294G>A (p.Ala3432Thr)
NM_001148.6(ANK2):c.10343G>A (p.Ser3448Asn)
NM_001148.6(ANK2):c.10346C>T (p.Thr3449Ile)
NM_001148.6(ANK2):c.10352C>G (p.Ser3451Cys) rs1219397825
NM_001148.6(ANK2):c.10360del (p.Arg3454fs) rs2096016231
NM_001148.6(ANK2):c.10445G>A (p.Ser3482Asn)
NM_001148.6(ANK2):c.10619A>G (p.Asp3540Gly)
NM_001148.6(ANK2):c.10879C>G (p.His3627Asp)
NM_001148.6(ANK2):c.10910T>C (p.Leu3637Pro)
NM_001148.6(ANK2):c.10924C>T (p.Arg3642Ter) rs757033443
NM_001148.6(ANK2):c.10963C>T (p.Pro3655Ser)
NM_001148.6(ANK2):c.11077C>A (p.Gln3693Lys)
NM_001148.6(ANK2):c.11437C>T (p.Gln3813Ter)
NM_001148.6(ANK2):c.11734G>A (p.Gly3912Ser) rs2096809119
NM_001148.6(ANK2):c.11819T>G (p.Ile3940Arg)
NM_001148.6(ANK2):c.142G>A (p.Val48Met)
NM_001148.6(ANK2):c.1754G>A (p.Arg585His)
NM_001148.6(ANK2):c.1793C>T (p.Thr598Ile)
NM_001148.6(ANK2):c.1802A>G (p.His601Arg)
NM_001148.6(ANK2):c.2179-1G>A rs2065825161
NM_001148.6(ANK2):c.2179-4A>G rs730880046
NM_001148.6(ANK2):c.2282_2289del (p.Gly761fs)
NM_001148.6(ANK2):c.2533G>A (p.Val845Ile)
NM_001148.6(ANK2):c.2743T>A (p.Tyr915Asn)
NM_001148.6(ANK2):c.2806C>G (p.Leu936Val) rs786205725
NM_001148.6(ANK2):c.2900+5162G>A
NM_001148.6(ANK2):c.3019C>T (p.Arg1007Ter) rs2092061253
NM_001148.6(ANK2):c.3343G>A (p.Asp1115Asn)
NM_001148.6(ANK2):c.4112G>T (p.Arg1371Met)
NM_001148.6(ANK2):c.4252C>A (p.Arg1418Ser)
NM_001148.6(ANK2):c.4567_4575del (p.Thr1523_Val1525del)
NM_001148.6(ANK2):c.4658A>G (p.Glu1553Gly)
NM_001148.6(ANK2):c.4916A>G (p.Tyr1639Cys)
NM_001148.6(ANK2):c.5015G>T (p.Gly1672Val)
NM_001148.6(ANK2):c.641A>T (p.Asn214Ile)
NM_001148.6(ANK2):c.6431T>C (p.Leu2144Ser) rs2154022426
NM_001148.6(ANK2):c.6665C>A (p.Thr2222Asn)
NM_001148.6(ANK2):c.694-3T>C
NM_001148.6(ANK2):c.8120A>G (p.Glu2707Gly)
NM_001148.6(ANK2):c.8237A>C (p.Asp2746Ala)
NM_001148.6(ANK2):c.8245G>T (p.Ala2749Ser)
NM_001148.6(ANK2):c.8246C>T (p.Ala2749Val)
NM_001148.6(ANK2):c.8645C>T (p.Thr2882Ile) rs56222626
NM_001148.6(ANK2):c.8648T>C (p.Phe2883Ser)
NM_001148.6(ANK2):c.9480G>T (p.Glu3160Asp)
NM_001148.6(ANK2):c.9730T>C (p.Cys3244Arg)

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