ClinVar Miner

List of variants in gene MSH2 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.211+9C>G rs2303426 0.55454
NM_000251.3(MSH2):c.1661+12G>A rs3732183 0.40290
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_000251.3(MSH2):c.367-168C>T rs17217758 0.08993
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_000251.3(MSH2):c.481G>A (p.Val161Ile) rs149511545 0.00019
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000251.3(MSH2):c.-9G>C rs547444746 0.00001
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter) rs63750778
NM_000251.3(MSH2):c.2005+1G>A rs267607986

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