ClinVar Miner

List of variants reported as likely pathogenic for Lynch syndrome 5 by Counsyl

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.125_132dup (p.Gly45fs) rs1553408245
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.3(MSH6):c.215_258del (p.Leu72fs) rs1553408380
NM_000179.3(MSH6):c.2692_2693del (p.Asn897_Pro898insTer) rs1553414029
NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter) rs1553410230
NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs) rs1057517552
NM_000179.3(MSH6):c.3371dup (p.Asn1124fs) rs1553331659
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs) rs1553333093
NM_000179.3(MSH6):c.3837_3843del (p.Ser1279fs) rs1553333370
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs) rs63751319
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.55del (p.Asp19fs) rs1553408127
NM_000179.3(MSH6):c.741dup (p.Arg248fs) rs267608041
NM_000179.3(MSH6):c.908dup (p.Met303fs) rs1057517551

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