ClinVar Miner

List of variants reported as benign for X-linked distal spinal muscular atrophy type 3 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968 0.00978
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_000052.7(ATP7A):c.610+8G>A rs144616937 0.00506
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278 0.00380
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617 0.00356
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730 0.00280
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly) rs146887876 0.00117
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591 0.00069
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00066
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150 0.00060
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992 0.00060
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067 0.00058
NM_000052.7(ATP7A):c.3801+6T>C rs181665434 0.00048
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154 0.00039
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448 0.00037
NM_000052.7(ATP7A):c.610+19A>G rs367724628 0.00036
NM_000052.7(ATP7A):c.864T>C (p.Cys288=) rs142521666 0.00036
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569 0.00028
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) rs370700841 0.00027
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642 0.00022
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) rs372318616 0.00020
NM_000052.7(ATP7A):c.2607A>G (p.Val869=) rs61053012 0.00020
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704 0.00018
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000 0.00018
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691 0.00015
NM_000052.7(ATP7A):c.312A>G (p.Gln104=) rs146414063 0.00014
NM_000052.7(ATP7A):c.3153C>T (p.His1051=) rs142998552 0.00014
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=) rs141535376 0.00013
NM_000052.7(ATP7A):c.1138G>A (p.Val380Met) rs149523862 0.00012
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669 0.00012
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) rs539177302 0.00012
NM_000052.7(ATP7A):c.3210C>T (p.His1070=) rs185917115 0.00012
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356 0.00010
NM_000052.7(ATP7A):c.2407-14G>T rs782184126 0.00009
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730 0.00009
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) rs782196306 0.00008
NM_000052.7(ATP7A):c.1615C>A (p.Pro539Thr) rs781817601 0.00008
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln) rs147848649 0.00008
NM_000052.7(ATP7A):c.1941A>G (p.Ile647Met) rs781844108 0.00007
NM_000052.7(ATP7A):c.209G>A (p.Gly70Asp) rs782415705 0.00007
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354 0.00007
NM_000052.7(ATP7A):c.4306G>A (p.Val1436Ile) rs781873881 0.00007
NM_000052.7(ATP7A):c.2892T>C (p.Phe964=) rs781832055 0.00006
NM_000052.7(ATP7A):c.493A>G (p.Met165Val) rs782097214 0.00006
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=) rs372232940 0.00005
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=) rs781928652 0.00005
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=) rs782154912 0.00005
NM_000052.7(ATP7A):c.2830T>C (p.Phe944Leu) rs782143115 0.00005
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) rs144293453 0.00005
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr) rs188836609 0.00005
NM_000052.7(ATP7A):c.2499-7T>C rs782260332 0.00004
NM_000052.7(ATP7A):c.2657G>A (p.Gly886Asp) rs188175511 0.00004
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=) rs369055537 0.00004
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=) rs782587854 0.00004
NM_000052.7(ATP7A):c.765A>G (p.Leu255=) rs781957871 0.00004
NM_000052.7(ATP7A):c.1522C>T (p.Arg508Trp) rs782603364 0.00003
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638 0.00003
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg) rs782577253 0.00003
NM_000052.7(ATP7A):c.2406+15G>C rs782547388 0.00003
NM_000052.7(ATP7A):c.2406+18G>A rs1243579823 0.00003
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219 0.00003
NM_000052.7(ATP7A):c.849T>C (p.Ile283=) rs782773745 0.00003
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro) rs374530062 0.00002
NM_000052.7(ATP7A):c.1425G>A (p.Met475Ile) rs782058395 0.00002
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala) rs1308442670 0.00002
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu) rs782602356 0.00002
NM_000052.7(ATP7A):c.2907C>G (p.Thr969=) rs781835541 0.00002
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val) rs374154862 0.00002
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser) rs782250966 0.00002
NM_000052.7(ATP7A):c.4006-10C>T rs782741784 0.00002
NM_000052.7(ATP7A):c.705A>C (p.Pro235=) rs199608277 0.00002
NM_000052.7(ATP7A):c.1209A>G (p.Pro403=) rs782744809 0.00001
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met) rs373634671 0.00001
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr) rs377651753 0.00001
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr) rs1557231562 0.00001
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val) rs781874593 0.00001
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu) rs879254156 0.00001
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys) rs782006661 0.00001
NM_000052.7(ATP7A):c.2947A>G (p.Thr983Ala) rs1023683992 0.00001
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly) rs782154314 0.00001
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173 0.00001
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln) rs782260602 0.00001
NM_000052.7(ATP7A):c.4206T>C (p.Leu1402=) rs782505602 0.00001
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln) rs368091927 0.00001
NM_000052.7(ATP7A):c.125C>T (p.Ser42Leu)
NM_000052.7(ATP7A):c.1350G>A (p.Pro450=)
NM_000052.7(ATP7A):c.1368G>T (p.Gln456His)
NM_000052.7(ATP7A):c.1463C>T (p.Ser488Phe)
NM_000052.7(ATP7A):c.1707+16del
NM_000052.7(ATP7A):c.1735G>A (p.Val579Ile) rs372116692
NM_000052.7(ATP7A):c.1735G>C (p.Val579Leu)
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=)
NM_000052.7(ATP7A):c.1890T>C (p.Ser630=)
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg) rs781900997
NM_000052.7(ATP7A):c.2172+8_2172+12dup rs782170618
NM_000052.7(ATP7A):c.2173-15A>G
NM_000052.7(ATP7A):c.220G>C (p.Val74Leu)
NM_000052.7(ATP7A):c.2305A>G (p.Met769Val)
NM_000052.7(ATP7A):c.235G>A (p.Asp79Asn)
NM_000052.7(ATP7A):c.2406+20C>T
NM_000052.7(ATP7A):c.2407-10del
NM_000052.7(ATP7A):c.2465T>C (p.Ile822Thr) rs782768766
NM_000052.7(ATP7A):c.2658C>T (p.Gly886=)
NM_000052.7(ATP7A):c.2782-17_2782-15del
NM_000052.7(ATP7A):c.3112-5dup rs1569550186
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)
NM_000052.7(ATP7A):c.3294+12dup rs1223290704
NM_000052.7(ATP7A):c.3358A>C (p.Ser1120Arg)
NM_000052.7(ATP7A):c.3423T>A (p.Asn1141Lys)
NM_000052.7(ATP7A):c.346A>G (p.Ile116Val)
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu) rs782688596
NM_000052.7(ATP7A):c.379G>A (p.Val127Met)
NM_000052.7(ATP7A):c.3801+13G>T
NM_000052.7(ATP7A):c.3802-12T>C
NM_000052.7(ATP7A):c.3873G>A (p.Glu1291=)
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=) rs372489000
NM_000052.7(ATP7A):c.4005+12G>A
NM_000052.7(ATP7A):c.4011T>C (p.Asp1337=)
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000052.7(ATP7A):c.4089A>G (p.Leu1363=)
NM_000052.7(ATP7A):c.4240A>C (p.Thr1414Pro)
NM_000052.7(ATP7A):c.4241C>T (p.Thr1414Ile)
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=) rs149079962
NM_000052.7(ATP7A):c.4401A>G (p.Leu1467=)
NM_000052.7(ATP7A):c.4440T>C (p.Ser1480=)
NM_000052.7(ATP7A):c.561C>T (p.Ser187=)
NM_000052.7(ATP7A):c.657T>G (p.Leu219=)
NM_000052.7(ATP7A):c.761G>A (p.Arg254His)
NM_000052.7(ATP7A):c.783A>G (p.Lys261=)
NM_000052.7(ATP7A):c.885T>C (p.Ile295=)

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