ClinVar Miner

List of variants in gene ABCC2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000392.5(ABCC2):c.2546T>G (p.Leu849Arg) rs17222617 0.01435
NM_000392.5(ABCC2):c.1446C>G (p.Thr482=) rs113646094 0.01182
NM_000392.5(ABCC2):c.842G>A (p.Ser281Asn) rs56131651 0.00539
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr) rs45441199 0.00494
NM_000392.5(ABCC2):c.3817A>G (p.Thr1273Ala) rs8187699 0.00331
NM_000392.5(ABCC2):c.4527C>T (p.Asn1509=) rs8187709 0.00269
NM_000392.5(ABCC2):c.1032-3C>T rs139800035 0.00253
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met) rs142573385 0.00173
NM_000392.5(ABCC2):c.3188A>G (p.Asn1063Ser) rs17222540 0.00165
NM_000392.5(ABCC2):c.2073C>A (p.Val691=) rs17222624 0.00155
NM_000392.5(ABCC2):c.2944A>G (p.Ile982Val) rs17222554 0.00140
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=) rs76302654 0.00056
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter) rs72558199 0.00053
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu) rs17222744 0.00051
NM_000392.5(ABCC2):c.2095-6A>G rs202210861 0.00049
NM_000392.5(ABCC2):c.1950G>A (p.Ser650=) rs138673546 0.00019
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535 0.00010
NM_000392.5(ABCC2):c.1658C>T (p.Thr553Ile) rs191954987 0.00002
NM_000392.5(ABCC2):c.4508+6T>C rs766426423 0.00001
NM_000392.5(ABCC2):c.1439T>C (p.Leu480Pro)
NM_000392.5(ABCC2):c.334-3C>T
NM_000392.5(ABCC2):c.4027C>T (p.Leu1343Phe)
NM_000392.5(ABCC2):c.4203C>T (p.Tyr1401=)

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