ClinVar Miner

List of variants in gene PMS2 reported as benign for breast disorder

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869 0.01065
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) rs141893001 0.00203
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.706-6_706-4del rs60794673

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