ClinVar Miner

List of variants in gene MSH6 reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.2056G>T (p.Gly686Cys) rs1060502934 0.00001
NM_000179.3(MSH6):c.2972C>T (p.Pro991Leu) rs375966384 0.00001
NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln) rs587782324 0.00001
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His) rs779617676 0.00001
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val) rs182024561 0.00001
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285 0.00001
NM_000179.3(MSH6):c.3725G>T (p.Arg1242Leu) rs63750119 0.00001
NM_000179.3(MSH6):c.3801+1G>T rs876660943 0.00001
NM_000179.3(MSH6):c.628-2A>G rs1114167725 0.00001
NC_000002.11:g.(?_48018056)_(48018272_?)dup
NC_000002.11:g.(?_48033429)_(48033905_?)del
NC_000002.11:g.(?_48033912)_(48034005_?)del
NC_000002.12:g.(?_47803398)_(47803695_?)dup
NC_000002.12:g.(?_47805433)_(47806875_?)del
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.1295T>G (p.Phe432Cys) rs750528093
NM_000179.3(MSH6):c.1316A>G (p.Asp439Gly) rs786202363
NM_000179.3(MSH6):c.1450G>C (p.Glu484Gln) rs587782706
NM_000179.3(MSH6):c.1972_3439-358del
NM_000179.3(MSH6):c.2080T>C (p.Cys694Arg) rs587779228
NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser) rs587779231
NM_000179.3(MSH6):c.2118T>A (p.Phe706Leu) rs2104389604
NM_000179.3(MSH6):c.2299A>C (p.Thr767Pro)
NM_000179.3(MSH6):c.2300C>A (p.Thr767Asn) rs587781462
NM_000179.3(MSH6):c.2302_2304del (p.Pro768del) rs63750647
NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu) rs1553413710
NM_000179.3(MSH6):c.2905T>C (p.Tyr969His) rs1348956744
NM_000179.3(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.3(MSH6):c.2T>C (p.Met1Thr)
NM_000179.3(MSH6):c.3173-1_3173del rs587779256
NM_000179.3(MSH6):c.3379_3438+5del rs1553331676
NM_000179.3(MSH6):c.3400G>C (p.Gly1134Arg) rs1114167697
NM_000179.3(MSH6):c.3401G>T (p.Gly1134Val) rs1376398586
NM_000179.3(MSH6):c.3431_3438+107del
NM_000179.3(MSH6):c.3438+2T>C rs1033749344
NM_000179.3(MSH6):c.3438+2T>G
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser) rs587779264
NM_000179.3(MSH6):c.3556+3_3556+13del rs587779269
NM_000179.3(MSH6):c.3557-1G>A
NM_000179.3(MSH6):c.3557-1G>C rs1114167723
NM_000179.3(MSH6):c.3557-1G>T rs1114167723
NM_000179.3(MSH6):c.3557-2A>G
NM_000179.3(MSH6):c.3557-2A>T rs1558390582
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000179.3(MSH6):c.3602T>G (p.Leu1201Arg)
NM_000179.3(MSH6):c.3631C>T (p.Leu1211Phe) rs2104525825
NM_000179.3(MSH6):c.3646+1G>A rs1553332772
NM_000179.3(MSH6):c.3646+1G>C rs1553332772
NM_000179.3(MSH6):c.3646+1G>T rs1553332772
NM_000179.3(MSH6):c.3646+1dup rs1553332768
NM_000179.3(MSH6):c.3646+2T>C rs1553332776
NM_000179.3(MSH6):c.3647-37_3684del rs2104535143
NM_000179.3(MSH6):c.3691GTT[1] (p.Val1232del) rs587779284
NM_000179.3(MSH6):c.3724C>G (p.Arg1242Gly) rs587779285
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000179.3(MSH6):c.3798_3801+9del rs1553333168
NM_000179.3(MSH6):c.3801+1_3801+5del rs1553333175
NM_000179.3(MSH6):c.3801+1del rs1553333185
NM_000179.3(MSH6):c.3801+2T>G rs1558392617
NM_000179.3(MSH6):c.3802-14_3809del
NM_000179.3(MSH6):c.3802-1G>A rs1572746025
NM_000179.3(MSH6):c.3802-1G>C rs1572746025
NM_000179.3(MSH6):c.3802-2A>G
NM_000179.3(MSH6):c.4000_4001insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg1334delinsLeuTer) rs2104565974
NM_000179.3(MSH6):c.4001+2T>C rs267608131
NM_000179.3(MSH6):c.4001+2dup
NM_000179.3(MSH6):c.4002-22_4002-10delinsAAGGG rs878853744
NM_000179.3(MSH6):c.4002-2A>G rs878853745
NM_000179.3(MSH6):c.457G>A (p.Gly153Ser) rs1060502885
NM_000179.3(MSH6):c.458-1G>T rs267608035
NM_000179.3(MSH6):c.458-2A>G rs2104227716
NM_000179.3(MSH6):c.627+1G>A rs1572716545
NM_000179.3(MSH6):c.627+1dup rs2104241415
NM_000179.3(MSH6):c.628-1G>C rs2104287071
NM_000179.3(MSH6):c.628-2A>C
NM_000179.3(MSH6):c.628-2A>T rs1114167725

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