ClinVar Miner

List of variants in gene combination LOC124418421, STIM1 reported as uncertain significance for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val) rs750326949 0.00011
NM_001382567.1(STIM1):c.2053G>A (p.Ala685Thr) rs201466902 0.00011
NM_001382567.1(STIM1):c.1994G>A (p.Arg665Gln) rs200632934 0.00009
NM_001382567.1(STIM1):c.1987G>A (p.Asp663Asn) rs369549218 0.00008
NM_001382567.1(STIM1):c.1937G>A (p.Arg646His) rs145197758 0.00006
NM_001382567.1(STIM1):c.1866C>G (p.Asp622Glu) rs776241052 0.00004
NM_001382567.1(STIM1):c.1856A>G (p.His619Arg) rs1176059435 0.00003
NM_001382567.1(STIM1):c.2104C>T (p.Arg702Trp) rs755346239 0.00003
NM_001382567.1(STIM1):c.1894C>T (p.Pro632Ser) rs200960094 0.00002
NM_001382567.1(STIM1):c.1822G>A (p.Ala608Thr) rs2094524790 0.00001
NM_001382567.1(STIM1):c.1873C>T (p.His625Tyr) rs201838782 0.00001
NM_001382567.1(STIM1):c.1892G>A (p.Ser631Asn) rs376050145 0.00001
NM_001382567.1(STIM1):c.1901C>T (p.Ala634Val) rs749622475 0.00001
NM_001382567.1(STIM1):c.1912G>A (p.Gly638Ser) rs200324378 0.00001
NM_001382567.1(STIM1):c.1960G>A (p.Asp654Asn) rs765041336 0.00001
NM_001382567.1(STIM1):c.2011C>T (p.Arg671Ter) rs930699942 0.00001
NM_001382567.1(STIM1):c.2012G>A (p.Arg671Gln) rs769001716 0.00001
NM_001382567.1(STIM1):c.2017A>G (p.Thr673Ala) rs1018411314 0.00001
NM_001382567.1(STIM1):c.2026C>G (p.Pro676Ala) rs1164327463 0.00001
NM_001382567.1(STIM1):c.2062G>A (p.Asp688Asn) rs142357642 0.00001
NM_001382567.1(STIM1):c.2093C>G (p.Ser698Cys) rs766934652 0.00001
NM_001382567.1(STIM1):c.2102G>A (p.Gly701Asp) rs1355379737 0.00001
NM_001382567.1(STIM1):c.1818C>A (p.Ser606Arg)
NM_001382567.1(STIM1):c.1818_1819delinsTA (p.Pro607Thr)
NM_001382567.1(STIM1):c.1820C>T (p.Pro607Leu) rs2094524774
NM_001382567.1(STIM1):c.1822G>T (p.Ala608Ser)
NM_001382567.1(STIM1):c.1837G>A (p.Ala613Thr) rs2133264567
NM_001382567.1(STIM1):c.1838C>T (p.Ala613Val) rs1590703419
NM_001382567.1(STIM1):c.1846G>A (p.Ala616Thr)
NM_001382567.1(STIM1):c.1850T>C (p.Leu617Pro)
NM_001382567.1(STIM1):c.1855C>A (p.His619Asn)
NM_001382567.1(STIM1):c.1855C>T (p.His619Tyr)
NM_001382567.1(STIM1):c.1859G>C (p.Gly620Ala) rs2094525006
NM_001382567.1(STIM1):c.1870G>T (p.Ala624Ser)
NM_001382567.1(STIM1):c.1882A>G (p.Met628Val)
NM_001382567.1(STIM1):c.1883T>C (p.Met628Thr)
NM_001382567.1(STIM1):c.1885G>A (p.Glu629Lys) rs2094525182
NM_001382567.1(STIM1):c.1887G>C (p.Glu629Asp) rs199874116
NM_001382567.1(STIM1):c.1895C>T (p.Pro632Leu)
NM_001382567.1(STIM1):c.1900G>T (p.Ala634Ser)
NM_001382567.1(STIM1):c.1909G>C (p.Gly637Arg) rs771983048
NM_001382567.1(STIM1):c.1913G>C (p.Gly638Ala)
NM_001382567.1(STIM1):c.1931C>T (p.Ser644Phe)
NM_001382567.1(STIM1):c.1943A>T (p.His648Leu) rs2133265240
NM_001382567.1(STIM1):c.1947C>A (p.Ser649Arg)
NM_001382567.1(STIM1):c.1969A>G (p.Thr657Ala) rs2094525733
NM_001382567.1(STIM1):c.1970C>T (p.Thr657Ile)
NM_001382567.1(STIM1):c.1981G>C (p.Val661Leu) rs1590703566
NM_001382567.1(STIM1):c.1982T>C (p.Val661Ala)
NM_001382567.1(STIM1):c.1991G>A (p.Ser664Asn)
NM_001382567.1(STIM1):c.1993C>T (p.Arg665Ter) rs756617504
NM_001382567.1(STIM1):c.1999C>A (p.Leu667Met) rs2094526007
NM_001382567.1(STIM1):c.2012G>T (p.Arg671Leu) rs769001716
NM_001382567.1(STIM1):c.2020C>T (p.Arg674Cys) rs779108452
NM_001382567.1(STIM1):c.2024T>C (p.Ile675Thr) rs2133265767
NM_001382567.1(STIM1):c.2035G>A (p.Ala679Thr) rs1447309539
NM_001382567.1(STIM1):c.2042A>G (p.Lys681Arg)
NM_001382567.1(STIM1):c.2047G>T (p.Ala683Ser) rs201992816
NM_001382567.1(STIM1):c.2054C>T (p.Ala685Val) rs1590703662
NM_001382567.1(STIM1):c.2058GGA[1] (p.Glu687del)
NM_001382567.1(STIM1):c.2062G>C (p.Asp688His)
NM_001382567.1(STIM1):c.2063A>C (p.Asp688Ala)
NM_001382567.1(STIM1):c.2065A>G (p.Asn689Asp)
NM_001382567.1(STIM1):c.2068G>A (p.Gly690Ser)
NM_001382567.1(STIM1):c.2069G>A (p.Gly690Asp)
NM_001382567.1(STIM1):c.2074A>G (p.Ile692Val)
NM_001382567.1(STIM1):c.2074A>T (p.Ile692Phe)
NM_001382567.1(STIM1):c.2075T>C (p.Ile692Thr)
NM_001382567.1(STIM1):c.2080G>A (p.Glu694Lys)
NM_001382567.1(STIM1):c.2086A>G (p.Thr696Ala)
NM_001382567.1(STIM1):c.2092T>C (p.Ser698Pro)
NM_001382567.1(STIM1):c.2092T>G (p.Ser698Ala)
NM_001382567.1(STIM1):c.2098C>T (p.Pro700Ser)
NM_001382567.1(STIM1):c.2105G>A (p.Arg702Gln) rs779204802

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