ClinVar Miner

List of variants in gene SRRT reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_015908.6(SRRT):c.1523A>G (p.Asn508Ser) rs144966688 0.00041
NM_015908.6(SRRT):c.980A>C (p.Lys327Thr) rs143173043 0.00022
NM_015908.6(SRRT):c.1147A>G (p.Lys383Glu) rs149587305 0.00015
NM_015908.6(SRRT):c.641G>A (p.Arg214Gln) rs769951704 0.00009
NM_015908.6(SRRT):c.1244G>A (p.Arg415Gln) rs150582291 0.00008
NM_015908.6(SRRT):c.1634C>T (p.Pro545Leu) rs147945684 0.00007
NM_015908.6(SRRT):c.1732G>A (p.Gly578Arg) rs200083178 0.00007
NM_015908.6(SRRT):c.1536G>C (p.Gln512His) rs149025559 0.00005
NM_015908.6(SRRT):c.1352C>T (p.Ala451Val) rs888110002 0.00003
NM_015908.6(SRRT):c.2243C>T (p.Ala748Val) rs138829624 0.00003
NM_015908.6(SRRT):c.917A>C (p.Asp306Ala) rs780973393 0.00003
NM_015908.6(SRRT):c.934G>A (p.Gly312Ser) rs139372604 0.00003
NM_015908.6(SRRT):c.1748C>T (p.Ala583Val) rs1047069689 0.00002
NM_015908.6(SRRT):c.305G>C (p.Gly102Ala) rs773092336 0.00002
NM_015908.6(SRRT):c.1061G>A (p.Arg354Gln) rs773607407 0.00001
NM_015908.6(SRRT):c.1312A>G (p.Ile438Val) rs753989283 0.00001
NM_015908.6(SRRT):c.1878C>A (p.Asn626Lys) rs751353837 0.00001
NM_015908.6(SRRT):c.1895A>G (p.Asn632Ser) rs906444936 0.00001
NM_015908.6(SRRT):c.209G>A (p.Arg70His) rs775337041 0.00001
NM_015908.6(SRRT):c.2404C>T (p.Arg802Trp) rs771409898 0.00001
NM_015908.6(SRRT):c.797G>A (p.Arg266His) rs775122762 0.00001
NM_015908.6(SRRT):c.982T>G (p.Ser328Ala) rs751698942 0.00001
NM_015908.6(SRRT):c.1013A>G (p.Lys338Arg)
NM_015908.6(SRRT):c.1049A>G (p.Lys350Arg) rs2485399039
NM_015908.6(SRRT):c.1129G>A (p.Gly377Ser)
NM_015908.6(SRRT):c.1134G>C (p.Gln378His) rs780669876
NM_015908.6(SRRT):c.1135G>T (p.Ala379Ser)
NM_015908.6(SRRT):c.1510G>A (p.Val504Ile)
NM_015908.6(SRRT):c.1523A>T (p.Asn508Ile)
NM_015908.6(SRRT):c.1544A>G (p.Gln515Arg)
NM_015908.6(SRRT):c.157G>A (p.Gly53Ser)
NM_015908.6(SRRT):c.1766C>T (p.Pro589Leu)
NM_015908.6(SRRT):c.1793A>G (p.Asn598Ser)
NM_015908.6(SRRT):c.1802G>A (p.Arg601Gln)
NM_015908.6(SRRT):c.1809G>C (p.Glu603Asp)
NM_015908.6(SRRT):c.184C>T (p.Arg62Trp)
NM_015908.6(SRRT):c.1854C>G (p.Ile618Met) rs765305318
NM_015908.6(SRRT):c.193C>T (p.Arg65Cys)
NM_015908.6(SRRT):c.1957C>T (p.Arg653Cys)
NM_015908.6(SRRT):c.1969G>A (p.Gly657Arg) rs1201930802
NM_015908.6(SRRT):c.2015C>T (p.Pro672Leu)
NM_015908.6(SRRT):c.2030G>A (p.Arg677Gln)
NM_015908.6(SRRT):c.2185C>T (p.Arg729Cys)
NM_015908.6(SRRT):c.2220T>G (p.Ile740Met)
NM_015908.6(SRRT):c.2329C>T (p.Leu777Phe)
NM_015908.6(SRRT):c.236G>C (p.Arg79Pro) rs1443871777
NM_015908.6(SRRT):c.2400G>C (p.Gln800His) rs980073819
NM_015908.6(SRRT):c.2413A>T (p.Ile805Phe)
NM_015908.6(SRRT):c.2431G>T (p.Gly811Cys)
NM_015908.6(SRRT):c.2479G>T (p.Ala827Ser)
NM_015908.6(SRRT):c.2480C>G (p.Ala827Gly)
NM_015908.6(SRRT):c.2507A>C (p.Tyr836Ser) rs1488446928
NM_015908.6(SRRT):c.2507A>G (p.Tyr836Cys) rs1488446928
NM_015908.6(SRRT):c.2512G>C (p.Ala838Pro) rs777143598
NM_015908.6(SRRT):c.632A>G (p.Gln211Arg)
NM_015908.6(SRRT):c.640C>T (p.Arg214Trp) rs201998782
NM_015908.6(SRRT):c.664A>T (p.Arg222Trp) rs2485384624
NM_015908.6(SRRT):c.694T>C (p.Trp232Arg)
NM_015908.6(SRRT):c.736A>G (p.Ile246Val)
NM_015908.6(SRRT):c.782C>T (p.Thr261Met)
NM_015908.6(SRRT):c.847C>T (p.Pro283Ser)
NM_015908.6(SRRT):c.851G>A (p.Ser284Asn)
NM_015908.6(SRRT):c.863A>G (p.Glu288Gly)
NM_015908.6(SRRT):c.892G>A (p.Gly298Arg)
NM_015908.6(SRRT):c.898C>T (p.Arg300Cys)
NM_015908.6(SRRT):c.899G>A (p.Arg300His)
NM_015908.6(SRRT):c.962A>G (p.Asn321Ser) rs1466581207
NM_015908.6(SRRT):c.974C>T (p.Thr325Ile)
NM_015908.6(SRRT):c.997G>A (p.Asp333Asn)

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