ClinVar Miner

List of variants in gene ABCC8 reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833 0.00130
NM_000352.6(ABCC8):c.1177-56G>A rs183921963 0.00123
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_000352.6(ABCC8):c.1630+10C>T rs188075767 0.00098
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_000352.6(ABCC8):c.3867+7G>A rs372198547 0.00049
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val) rs369049969 0.00016
NM_000352.6(ABCC8):c.4412-14C>T rs193922404 0.00016
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790 0.00011
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met) rs201351976 0.00008
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558 0.00008
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His) rs143557848 0.00006
NM_000352.6(ABCC8):c.647G>A (p.Arg216His) rs199702708 0.00006
NM_000352.6(ABCC8):c.1924-10C>T rs200823913 0.00004
NM_000352.6(ABCC8):c.3558-7G>A rs900191703 0.00004
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val) rs368450282 0.00004
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838 0.00003
NM_000352.6(ABCC8):c.170A>G (p.Lys57Arg) rs762919223 0.00001
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val) rs149400972 0.00001
NM_000352.6(ABCC8):c.3455C>T (p.Ala1152Val) rs1354859002 0.00001
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val) rs745918247 0.00001
NM_000352.6(ABCC8):c.1106A>G (p.Gln369Arg) rs756808492
NM_000352.6(ABCC8):c.1178C>T (p.Thr393Ile) rs377104807
NM_000352.6(ABCC8):c.1220T>A (p.Leu407Gln) rs1564955834
NM_000352.6(ABCC8):c.1818-7del rs1955709311
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.6(ABCC8):c.3455C>A (p.Ala1152Asp) rs1354859002
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.4268T>G (p.Ile1423Ser) rs1564874456
NM_000352.6(ABCC8):c.4274T>C (p.Leu1425Pro) rs1953879871
NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro) rs796891223
NM_000352.6(ABCC8):c.640G>A (p.Gly214Arg) rs1274656446
NM_000352.6(ABCC8):c.823C>T (p.Arg275Trp)

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