ClinVar Miner

List of variants in gene PROC reported as pathogenic for blood coagulation disease

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_000312.4(PROC):c.889G>C (p.Asp297His) rs199469471 0.00013
NM_000312.4(PROC):c.226G>A (p.Val76Met) rs121918149 0.00008
NM_000312.4(PROC):c.541T>G (p.Phe181Val) rs199469470 0.00005
NM_000312.4(PROC):c.814C>T (p.Arg272Cys) rs121918154 0.00004
NM_000312.4(PROC):c.1015G>A (p.Val339Met) rs121918158 0.00002
NM_000312.4(PROC):c.169C>T (p.Arg57Trp) rs757583846 0.00002
NM_000312.4(PROC):c.925G>A (p.Ala309Thr) rs121918146 0.00002
NM_000312.4(PROC):c.1000G>A (p.Gly334Ser) rs121918150 0.00001
NM_000312.4(PROC):c.1019C>T (p.Thr340Met) rs766261022 0.00001
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu) rs1211098698 0.00001
NM_000312.4(PROC):c.1201G>A (p.Asp401Asn) rs142742242 0.00001
NM_000312.4(PROC):c.1218G>A (p.Met406Ile) rs780456728 0.00001
NM_000312.4(PROC):c.1335C>G (p.Ile445Met) rs121918157 0.00001
NM_000312.4(PROC):c.400+5G>C rs199469478 0.00001
NM_000312.4(PROC):c.400G>T (p.Glu134Ter) rs1257816310 0.00001
NM_000312.4(PROC):c.445dup (p.His149fs) rs772629538 0.00001
NM_000312.4(PROC):c.446A>C (p.His149Pro) rs121918159 0.00001
NM_000312.4(PROC):c.479G>C (p.Cys160Ser) rs1450037999 0.00001
NM_000312.4(PROC):c.595C>T (p.Arg199Ter) rs1456533664 0.00001
NM_000312.4(PROC):c.629C>T (p.Pro210Leu) rs121918145 0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp) rs121918143 0.00001
NM_000312.4(PROC):c.659G>A (p.Arg220Gln) rs121918153 0.00001
NM_000312.4(PROC):c.811C>T (p.Arg271Trp) rs767112991 0.00001
NM_000312.4(PROC):c.935C>T (p.Ser312Leu) rs121918160 0.00001
NM_000312.4(PROC):c.962C>T (p.Pro321Leu) rs1321566264 0.00001
NC_000002.11:g.(?_128175983)_(128184818_?)del
NC_000002.12:g.127418425T>C rs2104934553
NM_000312.4(PROC):c.1027G>A (p.Gly343Ser) rs121918147
NM_000312.4(PROC):c.1042C>T (p.Arg348Ter) rs121918141
NM_000312.4(PROC):c.1163C>T (p.Ala388Val) rs769277939
NM_000312.4(PROC):c.1212dup (p.Pro405fs) rs1333329860
NM_000312.4(PROC):c.1268del (p.Gly423fs)
NM_000312.4(PROC):c.1332G>C (p.Trp444Cys) rs121918142
NM_000312.4(PROC):c.185A>C (p.Glu62Ala) rs121918148
NM_000312.4(PROC):c.303C>A (p.Cys101Ter) rs764808999
NM_000312.4(PROC):c.326_330dup (p.Cys111fs) rs1688218776
NM_000312.4(PROC):c.340G>T (p.Gly114Cys) rs374476971
NM_000312.4(PROC):c.360C>A (p.Cys120Ter)
NM_000312.4(PROC):c.400+1G>A rs1189377845
NM_000312.4(PROC):c.400+2T>A
NM_000312.4(PROC):c.400+2T>C rs2104953327
NM_000312.4(PROC):c.400+5G>A
NM_000312.4(PROC):c.400+5G>T
NM_000312.4(PROC):c.41G>A (p.Trp14Ter) rs758576042
NM_000312.4(PROC):c.520C>T (p.Gln174Ter) rs1434042239
NM_000312.4(PROC):c.552_553insTT (p.Arg185fs) rs1558715857
NM_000312.4(PROC):c.560G>A (p.Trp187Ter)
NM_000312.4(PROC):c.561G>A (p.Trp187Ter) rs1558715877
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) rs199469469
NM_000312.4(PROC):c.632G>A (p.Arg211Gln) rs199469476
NM_000312.4(PROC):c.658C>T (p.Arg220Trp) rs121918152
NM_000312.4(PROC):c.675G>A (p.Trp225Ter) rs757925208
NM_000312.4(PROC):c.678+9C>T rs1053253907
NM_000312.4(PROC):c.678G>C (p.Gln226His) rs121918155
NM_000312.4(PROC):c.698dup (p.Lys234fs)
NM_000312.4(PROC):c.6G>A (p.Trp2Ter)
NM_000312.4(PROC):c.793C>T (p.Leu265Phe) rs121918156
NM_000312.4(PROC):c.866C>T (p.Pro289Leu) rs121918151
NM_000312.4(PROC):c.902C>T (p.Ala301Val) rs121918144
NM_000312.4(PROC):c.907_908del (p.Leu303fs)
NM_000312.4(PROC):c.94C>T (p.Arg32Cys)
NM_000312.4(PROC):c.982C>T (p.Arg328Cys) rs201907715
PROC, ARG12TRP

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