ClinVar Miner

List of variants in gene ABCC2 reported by Ambry Genetics

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000392.5(ABCC2):c.1860T>A (p.Asp620Glu) rs141413284 0.00075
NM_000392.5(ABCC2):c.1602G>T (p.Lys534Asn) rs149593061 0.00022
NM_000392.5(ABCC2):c.2093A>G (p.Lys698Arg) rs199859869 0.00015
NM_000392.5(ABCC2):c.2964G>T (p.Met988Ile) rs145105011 0.00012
NM_000392.5(ABCC2):c.2911C>G (p.Leu971Val) rs772482844 0.00010
NM_000392.5(ABCC2):c.2461A>G (p.Ser821Gly) rs147649283 0.00007
NM_000392.5(ABCC2):c.1178G>A (p.Arg393Gln) rs763509429 0.00006
NM_000392.5(ABCC2):c.3615G>A (p.Arg1205=) rs377593832 0.00006
NM_000392.5(ABCC2):c.908A>G (p.Lys303Arg) rs200342237 0.00003
NM_000392.5(ABCC2):c.1109C>T (p.Ala370Val) rs144390464 0.00002
NM_000392.5(ABCC2):c.3068G>T (p.Arg1023Ile) rs374311166 0.00002
NM_000392.5(ABCC2):c.958A>G (p.Met320Val) rs375385616 0.00002
NM_000392.5(ABCC2):c.1964G>A (p.Arg655Gln) rs200976632 0.00001
NM_000392.5(ABCC2):c.2303G>A (p.Arg768Gln) rs536840524 0.00001
NM_000392.5(ABCC2):c.3025A>G (p.Ile1009Val) rs774137965 0.00001
NM_000392.5(ABCC2):c.1034T>G (p.Leu345Trp)
NM_000392.5(ABCC2):c.1057C>T (p.Arg353Cys)
NM_000392.5(ABCC2):c.1231G>C (p.Ala411Pro)
NM_000392.5(ABCC2):c.1272G>A (p.Met424Ile)
NM_000392.5(ABCC2):c.1295T>A (p.Met432Lys)
NM_000392.5(ABCC2):c.1354A>G (p.Ile452Val)
NM_000392.5(ABCC2):c.1949C>T (p.Ser650Leu)
NM_000392.5(ABCC2):c.1955C>G (p.Ala652Gly)
NM_000392.5(ABCC2):c.1975C>G (p.Leu659Val)
NM_000392.5(ABCC2):c.209T>G (p.Val70Gly)
NM_000392.5(ABCC2):c.2108A>G (p.Tyr703Cys)
NM_000392.5(ABCC2):c.215T>C (p.Val72Ala)
NM_000392.5(ABCC2):c.2248G>C (p.Asp750His)
NM_000392.5(ABCC2):c.2314G>C (p.Ala772Pro)
NM_000392.5(ABCC2):c.2466G>C (p.Met822Ile)
NM_000392.5(ABCC2):c.253C>G (p.Leu85Val)
NM_000392.5(ABCC2):c.299G>C (p.Arg100Pro)
NM_000392.5(ABCC2):c.3475A>G (p.Ile1159Val)
NM_000392.5(ABCC2):c.371G>T (p.Cys124Phe)
NM_000392.5(ABCC2):c.403T>C (p.Phe135Leu)
NM_000392.5(ABCC2):c.4084G>A (p.Gly1362Arg)
NM_000392.5(ABCC2):c.4088T>C (p.Val1363Ala)
NM_000392.5(ABCC2):c.4094T>C (p.Ile1365Thr)
NM_000392.5(ABCC2):c.416C>T (p.Ser139Leu)
NM_000392.5(ABCC2):c.4239_4240dup (p.His1414fs) rs762346634
NM_000392.5(ABCC2):c.4466T>G (p.Ile1489Ser)
NM_000392.5(ABCC2):c.454C>T (p.Arg152Trp)
NM_000392.5(ABCC2):c.464T>C (p.Leu155Ser)
NM_000392.5(ABCC2):c.544T>G (p.Ser182Ala)
NM_000392.5(ABCC2):c.800A>G (p.Gln267Arg)
NM_000392.5(ABCC2):c.968T>C (p.Leu323Pro)

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