ClinVar Miner

List of variants in gene STRA6 studied for Matthew-Wood syndrome

Included ClinVar conditions (16):
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Gene type:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_022369.4(STRA6):c.*222G>A rs10910 0.56107
NM_022369.4(STRA6):c.1167-10C>G rs2277608 0.19949
NM_022369.4(STRA6):c.*127T>C rs11631944 0.16338
NM_022369.4(STRA6):c.331C>T (p.Leu111=) rs11857410 0.15148
NM_022369.4(STRA6):c.1581G>A (p.Met527Ile) rs736118 0.10407
NM_022369.4(STRA6):c.*489T>C rs75117524 0.03106
NM_022369.4(STRA6):c.*569T>C rs78299262 0.02762
NM_022369.4(STRA6):c.597+9T>G rs28541560 0.01509
NM_022369.4(STRA6):c.*75C>A rs182529524 0.01016
NM_022369.4(STRA6):c.1416G>A (p.Ser472=) rs351241 0.00924
NM_022369.4(STRA6):c.1903G>A (p.Gly635Ser) rs145614612 0.00790
NM_022369.4(STRA6):c.173C>T (p.Ser58Leu) rs142105038 0.00787
NM_022369.4(STRA6):c.367G>C (p.Ala123Pro) rs115067613 0.00746
NM_022369.4(STRA6):c.1771G>A (p.Ala591Thr) rs115331762 0.00660
NM_022369.4(STRA6):c.1840+12C>T rs118056606 0.00660
NM_022369.4(STRA6):c.91G>A (p.Gly31Ser) rs111489755 0.00533
NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln) rs150814749 0.00390
NM_022369.4(STRA6):c.946G>A (p.Val316Met) rs150219390 0.00344
NM_022369.4(STRA6):c.1301-12C>T rs79510426 0.00205
NM_022369.4(STRA6):c.993G>A (p.Thr331=) rs116753967 0.00205
NM_022369.4(STRA6):c.1836C>T (p.Asp612=) rs142048815 0.00192
NM_022369.4(STRA6):c.1026C>T (p.Ile342=) rs79382990 0.00160
NM_022369.4(STRA6):c.1685-5C>G rs201730717 0.00112
NM_022369.4(STRA6):c.826C>T (p.Arg276Cys) rs142089943 0.00106
NM_022369.4(STRA6):c.357C>T (p.Pro119=) rs139775570 0.00100
NM_022369.4(STRA6):c.*190C>T rs191496909 0.00079
NM_022369.4(STRA6):c.239G>A (p.Cys80Tyr) rs180889966 0.00070
NM_022369.4(STRA6):c.973G>T (p.Val325Leu) rs202174410 0.00067
NM_022369.4(STRA6):c.145C>T (p.Pro49Ser) rs151176007 0.00056
NM_022369.4(STRA6):c.1419-11C>T rs199508878 0.00048
NM_022369.4(STRA6):c.388G>A (p.Ala130Thr) rs141477248 0.00045
NM_022369.4(STRA6):c.961A>C (p.Thr321Pro) rs118203962 0.00041
NM_022369.4(STRA6):c.902C>T (p.Thr301Ile) rs139450204 0.00040
NM_022369.4(STRA6):c.1957G>A (p.Val653Ile) rs150687411 0.00032
NM_022369.4(STRA6):c.*178C>T rs746189629 0.00029
NM_022369.4(STRA6):c.1391T>G (p.Leu464Arg) rs201408425 0.00020
NM_022369.4(STRA6):c.1692C>T (p.Tyr564=) rs757931484 0.00020
NM_022369.4(STRA6):c.2001C>T (p.Pro667=) rs147077716 0.00020
NM_022369.4(STRA6):c.*105G>A rs567317604 0.00019
NM_022369.4(STRA6):c.386T>C (p.Leu129Pro) rs139557843 0.00017
NM_022369.4(STRA6):c.*324C>T rs757666088 0.00016
NM_022369.4(STRA6):c.1677C>T (p.Leu559=) rs201582612 0.00016
NM_022369.4(STRA6):c.406+5C>T rs202172221 0.00016
NM_022369.4(STRA6):c.*10A>C rs545309882 0.00015
NM_022369.4(STRA6):c.1970C>T (p.Thr657Met) rs144043304 0.00013
NM_022369.4(STRA6):c.1242C>T (p.Arg414=) rs568924861 0.00011
NM_022369.4(STRA6):c.407-9A>T rs558310892 0.00011
NM_022369.4(STRA6):c.*189G>T rs529087735 0.00010
NM_022369.4(STRA6):c.1566G>T (p.Val522=) rs886051474 0.00010
NM_022369.4(STRA6):c.1668C>T (p.Ala556=) rs372149672 0.00010
NM_022369.4(STRA6):c.*399G>A rs555469778 0.00009
NM_022369.4(STRA6):c.1803C>T (p.Ala601=) rs2277607 0.00008
NM_022369.4(STRA6):c.180A>G (p.Ser60=) rs186185335 0.00008
NM_022369.4(STRA6):c.653T>C (p.Phe218Ser) rs764331156 0.00008
NM_022369.4(STRA6):c.366C>T (p.Asp122=) rs147428518 0.00007
NM_022369.4(STRA6):c.*381C>T rs544748271 0.00006
NM_022369.4(STRA6):c.1694C>T (p.Thr565Met) rs200483434 0.00006
NM_022369.4(STRA6):c.387C>A (p.Leu129=) rs150860532 0.00006
NM_022369.4(STRA6):c.591G>A (p.Val197=) rs138499753 0.00006
NM_022369.4(STRA6):c.1520G>A (p.Arg507Gln) rs751477964 0.00005
NM_022369.4(STRA6):c.-28G>C rs578022066 0.00004
NM_022369.4(STRA6):c.1191A>G (p.Arg397=) rs373116551 0.00004
NM_022369.4(STRA6):c.1341G>A (p.Thr447=) rs368073018 0.00004
NM_022369.4(STRA6):c.1931C>T (p.Thr644Met) rs118203960 0.00004
NM_022369.4(STRA6):c.-83G>A rs954180650 0.00003
NM_022369.4(STRA6):c.1670C>T (p.Ala557Val) rs748286024 0.00003
NM_022369.4(STRA6):c.1693A>G (p.Thr565Ala) rs548988185 0.00003
NM_022369.4(STRA6):c.1992T>C (p.Gly664=) rs775309731 0.00003
NM_022369.4(STRA6):c.4T>C (p.Ser2Pro) rs763026708 0.00003
NM_022369.4(STRA6):c.1963C>T (p.Arg655Cys) rs118203959 0.00002
NM_022369.4(STRA6):c.720+15C>T rs760855615 0.00002
NM_022369.4(STRA6):c.*32G>T rs886051473 0.00001
NM_022369.4(STRA6):c.*368G>C rs1052233880 0.00001
NM_022369.4(STRA6):c.1053G>A (p.Val351=) rs753723974 0.00001
NM_022369.4(STRA6):c.105G>A (p.Gln35=) rs199782189 0.00001
NM_022369.4(STRA6):c.1300+10C>T rs940086112 0.00001
NM_022369.4(STRA6):c.1300+18G>A rs776408592 0.00001
NM_022369.4(STRA6):c.1349C>A (p.Ala450Asp) rs748743382 0.00001
NM_022369.4(STRA6):c.1377T>C (p.His459=) rs753144270 0.00001
NM_022369.4(STRA6):c.1519C>T (p.Arg507Trp) rs376678879 0.00001
NM_022369.4(STRA6):c.1521-1G>A rs397518484 0.00001
NM_022369.4(STRA6):c.1867T>G (p.Ser623Ala) rs781757356 0.00001
NM_022369.4(STRA6):c.1964G>A (p.Arg655His) rs397514639 0.00001
NM_022369.4(STRA6):c.69G>A (p.Trp23Ter) rs267607096 0.00001
NM_022369.4(STRA6):c.741T>G (p.Ser247=) rs748339728 0.00001
NM_022369.4(STRA6):c.878C>T (p.Pro293Leu) rs118203958 0.00001
NM_022369.4(STRA6):c.945G>A (p.Leu315=) rs779538114 0.00001
NM_022369.4(STRA6):c.*141G>A rs2072890902
NM_022369.4(STRA6):c.*582T>C rs2072874635
NM_022369.4(STRA6):c.*72C>T rs1029459207
NM_022369.4(STRA6):c.*89T>C rs886051472
NM_022369.4(STRA6):c.-15-14G>T rs757189393
NM_022369.4(STRA6):c.-15-167G>A rs2074119629
NM_022369.4(STRA6):c.1027G>T (p.Val343Leu) rs575928531
NM_022369.4(STRA6):c.1035C>T (p.Ser345=)
NM_022369.4(STRA6):c.1079G>T (p.Trp360Leu) rs886051475
NM_022369.4(STRA6):c.113+3_113+4del rs1555457882
NM_022369.4(STRA6):c.1167-18C>T
NM_022369.4(STRA6):c.1260G>C (p.Trp420Cys) rs772736406
NM_022369.4(STRA6):c.1285G>C (p.Ala429Pro) rs2142004122
NM_022369.4(STRA6):c.1301-6T>A rs1367215268
NM_022369.4(STRA6):c.1418+10del rs377631858
NM_022369.4(STRA6):c.1418+18T>G rs2073034363
NM_022369.4(STRA6):c.1418+1_1418+3del rs751838285
NM_022369.4(STRA6):c.1419-9C>A rs1249326220
NM_022369.4(STRA6):c.147del (p.Gly50fs) rs606231125
NM_022369.4(STRA6):c.1520+14T>C rs200609080
NM_022369.4(STRA6):c.1565T>G (p.Val522Gly) rs559042530
NM_022369.4(STRA6):c.1594C>T (p.Arg532Ter) rs570214336
NM_022369.4(STRA6):c.1595G>T (p.Arg532Leu) rs2072978576
NM_022369.4(STRA6):c.1605C>A (p.Leu535=) rs141004067
NM_022369.4(STRA6):c.160G>T (p.Ala54Ser)
NM_022369.4(STRA6):c.1676dup (p.Asp560fs) rs1567177198
NM_022369.4(STRA6):c.1678G>C (p.Asp560His) rs397514638
NM_022369.4(STRA6):c.1685-15G>A rs151148422
NM_022369.4(STRA6):c.181A>T (p.Ile61Phe) rs1287605892
NM_022369.4(STRA6):c.1841-12C>T
NM_022369.4(STRA6):c.1871T>C (p.Met624Thr) rs747368136
NM_022369.4(STRA6):c.1942A>C (p.Asn648His) rs2072902264
NM_022369.4(STRA6):c.267-1G>T rs773297007
NM_022369.4(STRA6):c.269C>T (p.Pro90Leu) rs118203961
NM_022369.4(STRA6):c.347del (p.Leu116fs) rs2073803030
NM_022369.4(STRA6):c.35_36dup (p.Gly13fs) rs1555457919
NM_022369.4(STRA6):c.386_387delinsCA (p.Leu129Pro) rs1567193252
NM_022369.4(STRA6):c.431-16T>C
NM_022369.4(STRA6):c.431-2A>G rs759933321
NM_022369.4(STRA6):c.438G>A (p.Trp146Ter) rs2073766224
NM_022369.4(STRA6):c.480T>G (p.Pro160=) rs2142051141
NM_022369.4(STRA6):c.481del (p.Leu161fs) rs2073763723
NM_022369.4(STRA6):c.498G>A (p.Thr166=)
NM_022369.4(STRA6):c.50_52delinsCC (p.Asp17fs) rs606231126
NM_022369.4(STRA6):c.527dup (p.Ser177fs) rs606231127
NM_022369.4(STRA6):c.597+6C>T rs374631703
NM_022369.4(STRA6):c.597+7G>A rs370713890
NM_022369.4(STRA6):c.608A>G (p.Tyr203Cys) rs1595848874
NM_022369.4(STRA6):c.62dup (p.Ser22fs) rs2074102664
NM_022369.4(STRA6):c.65G>C (p.Ser22Thr)
NM_022369.4(STRA6):c.785G>T (p.Ser262Ile) rs1480965495
NM_022369.4(STRA6):c.794A>T (p.His265Leu)
NM_022369.4(STRA6):c.853A>T (p.Thr285Ser) rs886051476
NM_022369.4(STRA6):c.865+7G>A rs778564650
NM_022369.4(STRA6):c.910_911delinsAA (p.Gly304Lys) rs151341424
NM_022369.4(STRA6):c.927+11C>A
NM_022369.4(STRA6):c.928-17C>T
NM_022369.4(STRA6):c.985del (p.Val329fs) rs1595838712

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