ClinVar Miner

List of variants in gene LOC123522803, STING1 studied for hereditary disorder of connective tissue

Included ClinVar conditions (296):
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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_198282.4(STING1):c.376C>A (p.Leu126Ile) rs142609349 0.00363
NM_198282.4(STING1):c.348C>G (p.Pro116=) rs138994450 0.00092
NM_198282.4(STING1):c.411+14G>A rs201976218 0.00039
NM_198282.4(STING1):c.289G>A (p.Ala97Thr) rs181566154 0.00025
NM_198282.4(STING1):c.340G>A (p.Gly114Ser) rs189211438 0.00017
NM_198282.4(STING1):c.336G>A (p.Ala112=) rs377104086 0.00008
NM_198282.4(STING1):c.284G>A (p.Arg95His) rs1033930953 0.00006
NM_198282.4(STING1):c.398T>A (p.Leu133His) rs756483516 0.00004
NM_198282.4(STING1):c.339C>T (p.Val113=) rs749076471 0.00003
NM_198282.4(STING1):c.353C>T (p.Thr118Ile) rs1358836126 0.00002
NM_198282.4(STING1):c.380C>T (p.Ser127Leu) rs149528532 0.00002
NM_198282.4(STING1):c.256C>T (p.Arg86Trp) rs867650202 0.00001
NM_198282.4(STING1):c.281G>A (p.Arg94His) rs780666926 0.00001
NM_198282.4(STING1):c.288G>A (p.Gly96=) rs143115208 0.00001
NM_198282.4(STING1):c.337G>A (p.Val113Ile) rs770875890 0.00001
NM_198282.4(STING1):c.344C>T (p.Pro115Leu) rs769494344 0.00001
NM_198282.4(STING1):c.345G>A (p.Pro115=) rs780783675 0.00001
NM_198282.4(STING1):c.381G>A (p.Ser127=) rs757686770 0.00001
NM_198282.4(STING1):c.411+4T>C rs375733291 0.00001
NM_198282.4(STING1):c.257G>C (p.Arg86Pro) rs777336363
NM_198282.4(STING1):c.259G>A (p.Ala87Thr)
NM_198282.4(STING1):c.275C>A (p.Pro92His) rs1428188237
NM_198282.4(STING1):c.276C>A (p.Pro92=)
NM_198282.4(STING1):c.276C>T (p.Pro92=)
NM_198282.4(STING1):c.280C>T (p.Arg94Cys)
NM_198282.4(STING1):c.290C>A (p.Ala97Asp)
NM_198282.4(STING1):c.300G>A (p.Leu100=)
NM_198282.4(STING1):c.324C>T (p.Ser108=)
NM_198282.4(STING1):c.325C>T (p.Leu109Phe)
NM_198282.4(STING1):c.330A>T (p.Pro110=)
NM_198282.4(STING1):c.333T>A (p.Asn111Lys)
NM_198282.4(STING1):c.335C>T (p.Ala112Val)
NM_198282.4(STING1):c.343C>T (p.Pro115Ser)
NM_198282.4(STING1):c.345G>T (p.Pro115=)
NM_198282.4(STING1):c.357G>T (p.Trp119Cys)
NM_198282.4(STING1):c.364G>A (p.Ala122Thr)
NM_198282.4(STING1):c.366C>T (p.Ala122=) rs1426349581
NM_198282.4(STING1):c.376C>G (p.Leu126Val)
NM_198282.4(STING1):c.381G>T (p.Ser127=) rs757686770
NM_198282.4(STING1):c.389T>C (p.Leu130Pro)
NM_198282.4(STING1):c.395T>A (p.Ile132Asn)
NM_198282.4(STING1):c.395T>G (p.Ile132Ser) rs1346414429
NM_198282.4(STING1):c.397C>T (p.Leu133Phe) rs2152094323
NM_198282.4(STING1):c.400C>T (p.Leu134=)
NM_198282.4(STING1):c.411+10A>G rs1352670441
NM_198282.4(STING1):c.411+10_411+11del
NM_198282.4(STING1):c.411+10del
NM_198282.4(STING1):c.411+12G>A
NM_198282.4(STING1):c.411+12G>C rs764655300
NM_198282.4(STING1):c.411+12G>T
NM_198282.4(STING1):c.411+15del
NM_198282.4(STING1):c.411+17G>T
NM_198282.4(STING1):c.411+3A>G
NM_198282.4(STING1):c.411G>A (p.Lys137=)

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