ClinVar Miner

List of variants in gene PMS2 reported as likely benign for Breast and/or ovarian cancer

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_000535.7(PMS2):c.251-20T>G rs149343081 0.00086
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00039
NM_000535.7(PMS2):c.988+11T>C rs139969671 0.00032
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000535.7(PMS2):c.-7T>C rs199660792 0.00017
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000535.7(PMS2):c.240C>T (p.Phe80=) rs143162541 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215 0.00009
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748 0.00008
NM_000535.7(PMS2):c.1145-10G>A rs533551639 0.00006
NM_000535.7(PMS2):c.1500C>T (p.Ser500=) rs116094787 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_000535.7(PMS2):c.*17G>C rs556089649 0.00004
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609 0.00004
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000535.7(PMS2):c.-18G>C rs200624125 0.00001
NM_000535.7(PMS2):c.1368T>C (p.Ser456=) rs587780723 0.00001
NM_000535.7(PMS2):c.1713C>T (p.Leu571=) rs745774944 0.00001
NM_000535.7(PMS2):c.2148C>T (p.Thr716=) rs748404138 0.00001
NM_000535.7(PMS2):c.2373C>T (p.Ser791=) rs864622765 0.00001
NM_000535.7(PMS2):c.6G>A (p.Glu2=) rs774177383 0.00001
NM_000535.7(PMS2):c.1145-11C>T rs558565527
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.189G>A (p.Val63=) rs786203074
NM_000535.7(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.2166G>A (p.Arg722=) rs863224367
NM_000535.7(PMS2):c.2559C>T (p.Ile853=) rs371673459
NM_000535.7(PMS2):c.292C>T (p.Leu98=) rs1583408706
NM_000535.7(PMS2):c.384G>T (p.Ser128=) rs371342884
NM_000535.7(PMS2):c.624A>G (p.Gln208=) rs2128800667
NM_000535.7(PMS2):c.706-5_706-4dup
NM_000535.7(PMS2):c.706-6_706-4del rs60794673
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000535.7(PMS2):c.97C>T (p.Leu33=) rs878854061
NM_000535.7(PMS2):c.989-21_989-20del rs745927005

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