List of variants in gene PIGM studied for blood coagulation disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 82

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HGVS	dbSNP	gnomAD frequency
NM_145167.3(PIGM):c.1095T>A (p.Phe365Leu)	rs12409352	0.12873
NM_145167.3(PIGM):c.1150A>G (p.Asn384Asp)	rs61747491	0.04277
NM_145167.3(PIGM):c.180C>T (p.Arg60=)	rs41265753	0.01647
NM_145167.3(PIGM):c.582G>T (p.Leu194=)	rs35060029	0.00980
NM_145167.3(PIGM):c.6C>T (p.Gly2=)	rs61757715	0.00397
NM_145167.3(PIGM):c.819G>A (p.Pro273=)	rs138151842	0.00128
NM_145167.3(PIGM):c.999C>T (p.Ser333=)	rs187311473	0.00072
NM_145167.3(PIGM):c.950G>A (p.Cys317Tyr)	rs138769872	0.00040
NM_145167.3(PIGM):c.122G>A (p.Arg41Gln)	rs139936490	0.00020
NM_145167.3(PIGM):c.1017C>T (p.Tyr339=)	rs200046659	0.00019
NM_145167.3(PIGM):c.120C>T (p.Asp40=)	rs375538606	0.00016
NM_145167.3(PIGM):c.230C>T (p.Thr77Ile)	rs143391350	0.00012
NM_145167.3(PIGM):c.238C>G (p.Leu80Val)	rs945112516	0.00008
NM_145167.3(PIGM):c.104A>G (p.Tyr35Cys)	rs532931742	0.00007
NM_145167.3(PIGM):c.137G>A (p.Arg46Lys)	rs759956537	0.00006
NM_145167.3(PIGM):c.59G>A (p.Gly20Asp)	rs747612971	0.00004
NM_145167.3(PIGM):c.292C>A (p.Leu98Ile)	rs758854084	0.00002
NM_145167.3(PIGM):c.1199A>G (p.Asn400Ser)	rs780718300	0.00001
NM_145167.3(PIGM):c.183C>T (p.Phe61=)	rs745664346	0.00001
NM_145167.3(PIGM):c.294C>T (p.Leu98=)	rs750695305	0.00001
NM_145167.3(PIGM):c.404C>T (p.Pro135Leu)	rs143961780	0.00001
NM_145167.3(PIGM):c.412A>G (p.Met138Val)	rs773106649	0.00001
NM_145167.3(PIGM):c.438G>A (p.Ala146=)	rs772665564	0.00001
NM_145167.3(PIGM):c.696A>G (p.Ala232=)	rs1648314579	0.00001
NC_000001.10:g.(?_160000258)_(160001799_?)del
NC_000001.11:g.160032009G>C	rs587776528
NM_145167.3(PIGM):c.1001A>C (p.Gln334Pro)	rs1648302230
NM_145167.3(PIGM):c.1042C>G (p.Pro348Ala)	rs201082832
NM_145167.3(PIGM):c.1042C>T (p.Pro348Ser)
NM_145167.3(PIGM):c.1090T>C (p.Trp364Arg)
NM_145167.3(PIGM):c.1093T>G (p.Phe365Val)
NM_145167.3(PIGM):c.1100G>T (p.Gly367Val)
NM_145167.3(PIGM):c.1140del (p.Gln381fs)
NM_145167.3(PIGM):c.1143A>G (p.Gln381=)
NM_145167.3(PIGM):c.1148A>T (p.Lys383Met)
NM_145167.3(PIGM):c.114C>G (p.Phe38Leu)
NM_145167.3(PIGM):c.1159_1160del (p.Leu387fs)
NM_145167.3(PIGM):c.1193T>C (p.Leu398Pro)
NM_145167.3(PIGM):c.1217A>C (p.Gln406Pro)
NM_145167.3(PIGM):c.1254_1257del (p.Arg419fs)	rs755366154
NM_145167.3(PIGM):c.1269C>G (p.Asp423Glu)
NM_145167.3(PIGM):c.129G>A (p.Leu43=)
NM_145167.3(PIGM):c.130C>T (p.His44Tyr)
NM_145167.3(PIGM):c.148A>G (p.Ile50Val)
NM_145167.3(PIGM):c.160G>C (p.Val54Leu)
NM_145167.3(PIGM):c.189G>C (p.Thr63=)
NM_145167.3(PIGM):c.212G>A (p.Arg71Lys)
NM_145167.3(PIGM):c.216C>A (p.Ala72=)
NM_145167.3(PIGM):c.224G>A (p.Arg75His)
NM_145167.3(PIGM):c.232C>T (p.Pro78Ser)
NM_145167.3(PIGM):c.23G>A (p.Gly8Asp)
NM_145167.3(PIGM):c.254C>G (p.Thr85Ser)
NM_145167.3(PIGM):c.303C>A (p.Ser101Arg)
NM_145167.3(PIGM):c.364C>T (p.Arg122Cys)
NM_145167.3(PIGM):c.401del (p.Asn134fs)
NM_145167.3(PIGM):c.41T>C (p.Leu14Ser)
NM_145167.3(PIGM):c.422C>A (p.Ser141Tyr)
NM_145167.3(PIGM):c.443C>G (p.Ser148Cys)
NM_145167.3(PIGM):c.444T>A (p.Ser148=)
NM_145167.3(PIGM):c.445A>G (p.Ile149Val)
NM_145167.3(PIGM):c.454T>G (p.Ser152Ala)
NM_145167.3(PIGM):c.457C>G (p.Leu153Val)
NM_145167.3(PIGM):c.458T>G (p.Leu153Arg)
NM_145167.3(PIGM):c.501G>T (p.Ala167=)
NM_145167.3(PIGM):c.518A>G (p.Tyr173Cys)
NM_145167.3(PIGM):c.538A>G (p.Lys180Glu)
NM_145167.3(PIGM):c.538A>T (p.Lys180Ter)
NM_145167.3(PIGM):c.592C>T (p.Arg198Cys)
NM_145167.3(PIGM):c.605A>G (p.Lys202Arg)
NM_145167.3(PIGM):c.608G>A (p.Ser203Asn)
NM_145167.3(PIGM):c.613C>A (p.Arg205Ser)
NM_145167.3(PIGM):c.613C>T (p.Arg205Cys)
NM_145167.3(PIGM):c.649G>A (p.Glu217Lys)	rs536604932
NM_145167.3(PIGM):c.649G>C (p.Glu217Gln)
NM_145167.3(PIGM):c.686T>C (p.Leu229Pro)
NM_145167.3(PIGM):c.74C>A (p.Ala25Asp)
NM_145167.3(PIGM):c.805C>T (p.His269Tyr)
NM_145167.3(PIGM):c.836A>G (p.Tyr279Cys)
NM_145167.3(PIGM):c.863T>C (p.Phe288Ser)
NM_145167.3(PIGM):c.867C>G (p.Ser289=)	rs776974327
NM_145167.3(PIGM):c.8C>T (p.Ser3Phe)
NM_145167.3(PIGM):c.95T>C (p.Leu32Pro)

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