ClinVar Miner

List of variants in gene ATP2B2 reported as uncertain significance for not provided

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Gene type:
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Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_001001331.4(ATP2B2):c.2381C>T (p.Thr794Met) rs200946394 0.00007
NM_001001331.4(ATP2B2):c.1627G>A (p.Ala543Thr) rs777396418 0.00006
NM_001001331.4(ATP2B2):c.2953G>A (p.Ala985Thr) rs146069247 0.00005
NM_001001331.4(ATP2B2):c.53C>T (p.Ser18Leu) rs779940389 0.00004
NM_001001331.4(ATP2B2):c.2659G>A (p.Val887Met) rs762583223 0.00003
NM_001001331.4(ATP2B2):c.149A>T (p.Tyr50Phe) rs756130380 0.00002
NM_001001331.4(ATP2B2):c.1603A>G (p.Met535Val) rs745874947 0.00002
NM_001001331.4(ATP2B2):c.3420+1998G>T rs746796428 0.00002
NM_001001331.4(ATP2B2):c.700C>G (p.Leu234Val) rs1475754485 0.00002
NM_001001331.4(ATP2B2):c.2316+5G>A rs2060546740 0.00001
NM_001001331.4(ATP2B2):c.2816C>T (p.Pro939Leu) rs1559534482 0.00001
NM_001001331.4(ATP2B2):c.3157C>T (p.Pro1053Ser) rs1320953291 0.00001
NC_000003.11:g.(?_10400355)_(10401827_?)del
NC_000003.11:g.(?_10443755)_(10444052_?)del
NM_001001331.4(ATP2B2):c.1035G>C (p.Gln345His)
NM_001001331.4(ATP2B2):c.1108G>A (p.Ala370Thr)
NM_001001331.4(ATP2B2):c.118A>T (p.Thr40Ser)
NM_001001331.4(ATP2B2):c.1285C>G (p.Leu429Val)
NM_001001331.4(ATP2B2):c.12G>C (p.Met4Ile)
NM_001001331.4(ATP2B2):c.130G>C (p.Val44Leu)
NM_001001331.4(ATP2B2):c.1331T>C (p.Phe444Ser)
NM_001001331.4(ATP2B2):c.1342G>A (p.Val448Met)
NM_001001331.4(ATP2B2):c.1348G>C (p.Val450Leu) rs2125521057
NM_001001331.4(ATP2B2):c.136A>G (p.Ile46Val)
NM_001001331.4(ATP2B2):c.138C>G (p.Ile46Met)
NM_001001331.4(ATP2B2):c.1397C>G (p.Ser466Trp)
NM_001001331.4(ATP2B2):c.1405T>C (p.Tyr469His)
NM_001001331.4(ATP2B2):c.1409C>T (p.Ser470Leu)
NM_001001331.4(ATP2B2):c.1427A>G (p.Lys476Arg)
NM_001001331.4(ATP2B2):c.1460G>A (p.Cys487Tyr)
NM_001001331.4(ATP2B2):c.1508C>T (p.Thr503Met) rs1487836380
NM_001001331.4(ATP2B2):c.1523G>T (p.Arg508Leu)
NM_001001331.4(ATP2B2):c.1549G>A (p.Gly517Ser)
NM_001001331.4(ATP2B2):c.1555_1578del (p.Val519_Asp526del)
NM_001001331.4(ATP2B2):c.1576G>C (p.Asp526His)
NM_001001331.4(ATP2B2):c.1583G>A (p.Ser528Asn)
NM_001001331.4(ATP2B2):c.1588A>G (p.Ile530Val)
NM_001001331.4(ATP2B2):c.158C>T (p.Thr53Ile)
NM_001001331.4(ATP2B2):c.1613T>A (p.Leu538Gln)
NM_001001331.4(ATP2B2):c.1615A>G (p.Ile539Val)
NM_001001331.4(ATP2B2):c.1631T>C (p.Ile544Thr)
NM_001001331.4(ATP2B2):c.1678G>A (p.Ala560Thr)
NM_001001331.4(ATP2B2):c.1687C>T (p.Arg563Trp)
NM_001001331.4(ATP2B2):c.1706C>T (p.Thr569Met)
NM_001001331.4(ATP2B2):c.1748A>G (p.Asp583Gly)
NM_001001331.4(ATP2B2):c.1759G>A (p.Val587Met) rs759927011
NM_001001331.4(ATP2B2):c.176G>A (p.Arg59His)
NM_001001331.4(ATP2B2):c.176G>T (p.Arg59Leu)
NM_001001331.4(ATP2B2):c.1826T>C (p.Met609Thr) rs2125450656
NM_001001331.4(ATP2B2):c.1829G>C (p.Ser610Thr)
NM_001001331.4(ATP2B2):c.182A>G (p.Lys61Arg)
NM_001001331.4(ATP2B2):c.1866G>T (p.Met622Ile)
NM_001001331.4(ATP2B2):c.18C>G (p.Asn6Lys)
NM_001001331.4(ATP2B2):c.1901A>G (p.Lys634Arg)
NM_001001331.4(ATP2B2):c.1901A>T (p.Lys634Met)
NM_001001331.4(ATP2B2):c.1936C>T (p.Arg646Cys)
NM_001001331.4(ATP2B2):c.1951C>T (p.Arg651Cys)
NM_001001331.4(ATP2B2):c.1954G>A (p.Asp652Asn)
NM_001001331.4(ATP2B2):c.199+4A>G rs2125179082
NM_001001331.4(ATP2B2):c.1997G>A (p.Cys666Tyr)
NM_001001331.4(ATP2B2):c.2008C>T (p.Arg670Cys)
NM_001001331.4(ATP2B2):c.2020G>A (p.Val674Met)
NM_001001331.4(ATP2B2):c.2048C>T (p.Pro683Leu)
NM_001001331.4(ATP2B2):c.2093C>T (p.Thr698Ile)
NM_001001331.4(ATP2B2):c.2104G>A (p.Val702Met)
NM_001001331.4(ATP2B2):c.2107G>T (p.Val703Leu) rs2060810402
NM_001001331.4(ATP2B2):c.2111G>T (p.Gly704Val) rs2060810244
NM_001001331.4(ATP2B2):c.2113A>T (p.Ile705Phe) rs2125445636
NM_001001331.4(ATP2B2):c.2128C>T (p.Arg710Trp)
NM_001001331.4(ATP2B2):c.2129G>A (p.Arg710Gln)
NM_001001331.4(ATP2B2):c.2136+3A>G rs1553652884
NM_001001331.4(ATP2B2):c.2152C>T (p.Arg718Cys)
NM_001001331.4(ATP2B2):c.2174T>A (p.Ile725Asn) rs1574980625
NM_001001331.4(ATP2B2):c.2216G>C (p.Arg739Pro)
NM_001001331.4(ATP2B2):c.2246A>C (p.His749Pro)
NM_001001331.4(ATP2B2):c.2272G>A (p.Glu758Lys)
NM_001001331.4(ATP2B2):c.2336A>G (p.Asp779Gly)
NM_001001331.4(ATP2B2):c.2368C>T (p.Arg790Cys)
NM_001001331.4(ATP2B2):c.2369G>A (p.Arg790His)
NM_001001331.4(ATP2B2):c.2385C>G (p.Asp795Glu)
NM_001001331.4(ATP2B2):c.2405-3C>T
NM_001001331.4(ATP2B2):c.2426C>T (p.Thr809Ile)
NM_001001331.4(ATP2B2):c.2472C>G (p.Asp824Glu)
NM_001001331.4(ATP2B2):c.2474G>A (p.Gly825Glu)
NM_001001331.4(ATP2B2):c.250C>G (p.Gln84Glu)
NM_001001331.4(ATP2B2):c.2511+6A>G
NM_001001331.4(ATP2B2):c.2516T>A (p.Ile839Asn) rs1485572860
NM_001001331.4(ATP2B2):c.2543C>A (p.Ala848Asp)
NM_001001331.4(ATP2B2):c.2545T>C (p.Ser849Pro)
NM_001001331.4(ATP2B2):c.2551A>T (p.Ile851Phe)
NM_001001331.4(ATP2B2):c.2556C>G (p.Ile852Met)
NM_001001331.4(ATP2B2):c.2584G>A (p.Val862Ile)
NM_001001331.4(ATP2B2):c.2594T>A (p.Val865Glu)
NM_001001331.4(ATP2B2):c.2606G>A (p.Arg869His)
NM_001001331.4(ATP2B2):c.2658C>G (p.Asn886Lys) rs145040618
NM_001001331.4(ATP2B2):c.2662G>A (p.Val888Met)
NM_001001331.4(ATP2B2):c.2684C>A (p.Thr895Lys)
NM_001001331.4(ATP2B2):c.2689G>A (p.Ala897Thr)
NM_001001331.4(ATP2B2):c.2711C>G (p.Pro904Arg) rs2125380296
NM_001001331.4(ATP2B2):c.2765C>T (p.Ser922Leu) rs1057520233
NM_001001331.4(ATP2B2):c.2786C>T (p.Pro929Leu)
NM_001001331.4(ATP2B2):c.2797A>T (p.Thr933Ser)
NM_001001331.4(ATP2B2):c.2806C>G (p.Leu936Val)
NM_001001331.4(ATP2B2):c.2813A>G (p.Lys938Arg)
NM_001001331.4(ATP2B2):c.2896A>T (p.Ile966Phe)
NM_001001331.4(ATP2B2):c.2917+3G>A
NM_001001331.4(ATP2B2):c.2917+3G>C rs2125379156
NM_001001331.4(ATP2B2):c.2917+6C>T
NM_001001331.4(ATP2B2):c.2T>C (p.Met1Thr)
NM_001001331.4(ATP2B2):c.3017A>G (p.Gln1006Arg)
NM_001001331.4(ATP2B2):c.303G>C (p.Glu101Asp)
NM_001001331.4(ATP2B2):c.3040C>T (p.Arg1014Cys)
NM_001001331.4(ATP2B2):c.3046A>G (p.Ile1016Val) rs2125369003
NM_001001331.4(ATP2B2):c.3058C>T (p.Arg1020Cys)
NM_001001331.4(ATP2B2):c.3059G>T (p.Arg1020Leu) rs760285222
NM_001001331.4(ATP2B2):c.3073G>A (p.Gly1025Ser)
NM_001001331.4(ATP2B2):c.3082_3096del (p.Arg1028_Phe1032del)
NM_001001331.4(ATP2B2):c.3083G>A (p.Arg1028Gln)
NM_001001331.4(ATP2B2):c.3113G>A (p.Gly1038Asp)
NM_001001331.4(ATP2B2):c.3137T>C (p.Ile1046Thr)
NM_001001331.4(ATP2B2):c.3176T>C (p.Leu1059Pro)
NM_001001331.4(ATP2B2):c.3212G>A (p.Gly1071Glu)
NM_001001331.4(ATP2B2):c.3226G>A (p.Val1076Ile)
NM_001001331.4(ATP2B2):c.32C>A (p.Ser11Tyr)
NM_001001331.4(ATP2B2):c.3329A>G (p.Asn1110Ser)
NM_001001331.4(ATP2B2):c.3331G>A (p.Glu1111Lys)
NM_001001331.4(ATP2B2):c.3337G>A (p.Val1113Met)
NM_001001331.4(ATP2B2):c.3340GAG[1] (p.Glu1115del)
NM_001001331.4(ATP2B2):c.3355_3357delinsACA (p.Ala1119Thr) rs2125357954
NM_001001331.4(ATP2B2):c.3361C>G (p.Arg1121Gly)
NM_001001331.4(ATP2B2):c.3361C>T (p.Arg1121Trp)
NM_001001331.4(ATP2B2):c.3362G>C (p.Arg1121Pro) rs2125357897
NM_001001331.4(ATP2B2):c.3397_3398delinsAT (p.Gly1133Ile)
NM_001001331.4(ATP2B2):c.3407G>A (p.Arg1136Gln) rs1421474714
NM_001001331.4(ATP2B2):c.3420+1997T>C
NM_001001331.4(ATP2B2):c.3420+2045G>C
NM_001001331.4(ATP2B2):c.3430G>T (p.Val1144Leu)
NM_001001331.4(ATP2B2):c.3455_3456del (p.Leu1151_Tyr1152insTer)
NM_001001331.4(ATP2B2):c.3521G>A (p.Arg1174Gln)
NM_001001331.4(ATP2B2):c.3563C>G (p.Thr1188Ser)
NM_001001331.4(ATP2B2):c.3584C>T (p.Ala1195Val)
NM_001001331.4(ATP2B2):c.3599C>T (p.Ser1200Leu)
NM_001001331.4(ATP2B2):c.3722C>T (p.Thr1241Met)
NM_001001331.4(ATP2B2):c.375C>A (p.His125Gln) rs2125017372
NM_001001331.4(ATP2B2):c.394G>A (p.Glu132Lys)
NM_001001331.4(ATP2B2):c.404C>T (p.Ala135Val)
NM_001001331.4(ATP2B2):c.407C>T (p.Thr136Met)
NM_001001331.4(ATP2B2):c.421G>A (p.Ala141Thr)
NM_001001331.4(ATP2B2):c.485T>C (p.Ile162Thr) rs2062247663
NM_001001331.4(ATP2B2):c.505_507dup (p.Ala169_Phe170insAla)
NM_001001331.4(ATP2B2):c.527A>T (p.Glu176Val)
NM_001001331.4(ATP2B2):c.538C>T (p.Arg180Trp) rs2124971839
NM_001001331.4(ATP2B2):c.571_572delinsGT (p.Lys191Val)
NM_001001331.4(ATP2B2):c.580G>A (p.Val194Met)
NM_001001331.4(ATP2B2):c.610C>G (p.Pro204Ala) rs2124971330
NM_001001331.4(ATP2B2):c.617C>A (p.Ala206Asp)
NM_001001331.4(ATP2B2):c.639A>G (p.Ile213Met)
NM_001001331.4(ATP2B2):c.654T>C (p.Tyr218=)
NM_001001331.4(ATP2B2):c.656-3C>T
NM_001001331.4(ATP2B2):c.673G>A (p.Asp225Asn)
NM_001001331.4(ATP2B2):c.746G>A (p.Arg249His)
NM_001001331.4(ATP2B2):c.766C>G (p.Pro256Ala)
NM_001001331.4(ATP2B2):c.781+8T>G
NM_001001331.4(ATP2B2):c.788A>T (p.His263Leu)
NM_001001331.4(ATP2B2):c.790G>T (p.Val264Leu) rs2124875506
NM_001001331.4(ATP2B2):c.79A>G (p.Thr27Ala)
NM_001001331.4(ATP2B2):c.7G>A (p.Asp3Asn)
NM_001001331.4(ATP2B2):c.806G>C (p.Gly269Ala)
NM_001001331.4(ATP2B2):c.80C>A (p.Thr27Lys)
NM_001001331.4(ATP2B2):c.830G>T (p.Gly277Val)
NM_001001331.4(ATP2B2):c.885G>C (p.Glu295Asp) rs373192330
NM_001001331.4(ATP2B2):c.910G>T (p.Val304Leu)
NM_001001331.4(ATP2B2):c.94C>T (p.Arg32Cys)
NM_001001331.4(ATP2B2):c.95G>A (p.Arg32His)

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