List of variants in gene MSH6 reported as likely pathogenic by Color Diagnostics, LLC DBA Color Health

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	rs63750617	0.00002
NM_000179.3(MSH6):c.261-1G>C	rs863225402	0.00001
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)	rs779617676	0.00001
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)	rs587779285	0.00001
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)	rs587779204
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)	rs750528093
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del)	rs1064793600
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)	rs267608073
NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro)	rs587779254
NM_000179.3(MSH6):c.3172+1G>C	rs587779255
NM_000179.3(MSH6):c.3172+1G>T	rs587779255
NM_000179.3(MSH6):c.3173-10_3173-6del	rs781520783
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)	rs63750617
NM_000179.3(MSH6):c.3379_3438+5del	rs1553331676
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg)	rs864622607
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)	rs587779264
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)	rs63751328
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro)	rs864622041
NM_000179.3(MSH6):c.3646+1dup	rs1553332768
NM_000179.3(MSH6):c.3646+2T>C	rs1553332776
NM_000179.3(MSH6):c.3647-1G>C	rs587779279
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del)	rs876658650
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)	rs863225412
NM_000179.3(MSH6):c.3798_3801+9del	rs1553333168
NM_000179.3(MSH6):c.3802-2A>G
NM_000179.3(MSH6):c.3802-7_3802-4del	rs876661171
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)	rs1553333753
NM_000179.3(MSH6):c.3999dup (p.Arg1334fs)	rs863225418
NM_000179.3(MSH6):c.4002-2A>G	rs878853745
NM_000179.3(MSH6):c.4002-6_4002-1del	rs1670205307
NM_000179.3(MSH6):c.4004_4007dup (p.Cys1337fs)	rs876658497
NM_000179.3(MSH6):c.4008_4009dup (p.Cys1337fs)	rs1553333981
NM_000179.3(MSH6):c.458-1G>A	rs267608035

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