ClinVar Miner

List of variants in gene STRA6 reported as uncertain significance for Matthew-Wood syndrome

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_022369.4(STRA6):c.993G>A (p.Thr331=) rs116753967 0.00205
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.388G>A (p.Ala130Thr) rs141477248 0.00045
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.*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.*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.*189G>T rs529087735 0.00010
NM_022369.4(STRA6):c.1566G>T (p.Val522=) rs886051474 0.00010
NM_022369.4(STRA6):c.*399G>A rs555469778 0.00009
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.1520G>A (p.Arg507Gln) rs751477964 0.00005
NM_022369.4(STRA6):c.-28G>C rs578022066 0.00004
NM_022369.4(STRA6):c.1341G>A (p.Thr447=) rs368073018 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.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.1300+10C>T rs940086112 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.1867T>G (p.Ser623Ala) rs781757356 0.00001
NM_022369.4(STRA6):c.741T>G (p.Ser247=) rs748339728 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.1079G>T (p.Trp360Leu) rs886051475
NM_022369.4(STRA6):c.1260G>C (p.Trp420Cys) rs772736406
NM_022369.4(STRA6):c.1419-9C>A rs1249326220
NM_022369.4(STRA6):c.1520+14T>C rs200609080
NM_022369.4(STRA6):c.1565T>G (p.Val522Gly) rs559042530
NM_022369.4(STRA6):c.1595G>T (p.Arg532Leu) rs2072978576
NM_022369.4(STRA6):c.160G>T (p.Ala54Ser)
NM_022369.4(STRA6):c.181A>T (p.Ile61Phe) rs1287605892
NM_022369.4(STRA6):c.1871T>C (p.Met624Thr) rs747368136
NM_022369.4(STRA6):c.1922T>A (p.Leu641Gln)
NM_022369.4(STRA6):c.1942A>C (p.Asn648His) rs2072902264
NM_022369.4(STRA6):c.386_387delinsCA (p.Leu129Pro) rs1567193252
NM_022369.4(STRA6):c.597+7G>A rs370713890
NM_022369.4(STRA6):c.608A>G (p.Tyr203Cys) rs1595848874
NM_022369.4(STRA6):c.65G>C (p.Ser22Thr)
NM_022369.4(STRA6):c.785G>T (p.Ser262Ile) rs1480965495
NM_022369.4(STRA6):c.853A>T (p.Thr285Ser) rs886051476
NM_022369.4(STRA6):c.865+7G>A rs778564650

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