ClinVar Miner

List of variants in gene combination ABCC8, LOC110121471 reported by Invitae

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2292-36C>T rs1800851 0.15949
NM_000352.6(ABCC8):c.2391-17G>T rs201484528 0.00206
NM_000352.6(ABCC8):c.2390+17G>C rs200705248 0.00035
NM_000352.6(ABCC8):c.2304C>T (p.Pro768=) rs199541853 0.00010
NM_000352.6(ABCC8):c.2292-14C>T rs756881134 0.00004
NM_000352.6(ABCC8):c.2473C>A (p.Arg825=) rs779736828 0.00002
NM_000352.6(ABCC8):c.2391-5G>A rs370096884 0.00001
NM_000352.6(ABCC8):c.2391-6C>T rs556416038 0.00001
NM_000352.6(ABCC8):c.2391-8C>A rs1409319401 0.00001
NM_000352.6(ABCC8):c.2403C>A (p.Val801=) rs148863748 0.00001
NM_000352.6(ABCC8):c.2433C>T (p.Ile811=) rs766830060 0.00001
NM_000352.6(ABCC8):c.2292-13C>G
NM_000352.6(ABCC8):c.2292-13C>T
NM_000352.6(ABCC8):c.2292-16G>A
NM_000352.6(ABCC8):c.2292-17C>T
NM_000352.6(ABCC8):c.2295G>A (p.Lys765=)
NM_000352.6(ABCC8):c.2298_2308del (p.Arg766fs)
NM_000352.6(ABCC8):c.2301C>A (p.Gly767=) rs1216991785
NM_000352.6(ABCC8):c.2301C>T (p.Gly767=)
NM_000352.6(ABCC8):c.2305G>A (p.Val769Met)
NM_000352.6(ABCC8):c.2316T>G (p.Ala772=) rs759574974
NM_000352.6(ABCC8):c.2319G>A (p.Ser773=) rs766321878
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=) rs766321878
NM_000352.6(ABCC8):c.2319G>T (p.Ser773=)
NM_000352.6(ABCC8):c.2325del (p.Lys775fs)
NM_000352.6(ABCC8):c.2328A>G (p.Pro776=) rs1954973238
NM_000352.6(ABCC8):c.2334G>T (p.Leu778=)
NM_000352.6(ABCC8):c.2376C>G (p.Pro792=) rs1377727395
NM_000352.6(ABCC8):c.2382C>T (p.Asn794=) rs760745030
NM_000352.6(ABCC8):c.2385A>G (p.Lys795=)
NM_000352.6(ABCC8):c.2390+13C>T
NM_000352.6(ABCC8):c.2390+14G>A
NM_000352.6(ABCC8):c.2390+18G>A
NM_000352.6(ABCC8):c.2390+19G>A
NM_000352.6(ABCC8):c.2390+1G>A
NM_000352.6(ABCC8):c.2390+7G>A rs1281849523
NM_000352.6(ABCC8):c.2390+7del
NM_000352.6(ABCC8):c.2390+8C>G rs2133478171
NM_000352.6(ABCC8):c.2391-10C>T rs2133474006
NM_000352.6(ABCC8):c.2391-11A>G
NM_000352.6(ABCC8):c.2391-17G>C
NM_000352.6(ABCC8):c.2391-19C>T
NM_000352.6(ABCC8):c.2391-1G>A rs2133473953
NM_000352.6(ABCC8):c.2391-4C>G
NM_000352.6(ABCC8):c.2391-7A>T
NM_000352.6(ABCC8):c.2391-9C>T rs780814554
NM_000352.6(ABCC8):c.2400G>T (p.Met800Ile)
NM_000352.6(ABCC8):c.2407G>A (p.Glu803Lys)
NM_000352.6(ABCC8):c.2409A>G (p.Glu803=)
NM_000352.6(ABCC8):c.2412C>T (p.Ala804=) rs2133473816
NM_000352.6(ABCC8):c.2415C>T (p.Cys805=)
NM_000352.6(ABCC8):c.2418T>C (p.Ser806=) rs2133473764
NM_000352.6(ABCC8):c.2421G>A (p.Leu807=)
NM_000352.6(ABCC8):c.2431_2435dup (p.Asp812fs)
NM_000352.6(ABCC8):c.2434G>A (p.Asp812Asn)
NM_000352.6(ABCC8):c.2442G>A (p.Leu814=)
NM_000352.6(ABCC8):c.2451A>G (p.Gly817=) rs2133473459
NM_000352.6(ABCC8):c.2453del (p.Asp818fs)
NM_000352.6(ABCC8):c.2473C>T (p.Arg825Trp) rs779736828
NM_000352.6(ABCC8):c.2475+16T>A
NM_000352.6(ABCC8):c.2475+1G>A rs772026262
NM_000352.6(ABCC8):c.2475+1G>T
NM_000352.6(ABCC8):c.2475+2T>A
NM_000352.6(ABCC8):c.2475+8del rs2133473239

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