ClinVar Miner

List of variants studied for thrombophilia due to protein C deficiency, autosomal recessive

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000312.4(PROC):c.535+44A>G rs1878844 0.99385
NM_000312.4(PROC):c.423G>T (p.Ser141=) rs5936 0.69846
NM_000312.4(PROC):c.768T>C (p.Asp256=) rs5937 0.27234
NM_000312.4(PROC):c.1107G>A (p.Pro369=) rs61731660 0.01266
NM_000312.4(PROC):c.400+13G>A rs116738363 0.01228
NM_000312.4(PROC):c.*146T>C rs140461934 0.00158
NM_000312.4(PROC):c.30C>T (p.Phe10=) rs148490199 0.00059
NM_000312.4(PROC):c.1212G>A (p.Gly404=) rs370637632 0.00016
NM_000312.4(PROC):c.703A>C (p.Lys235Gln) rs370086431 0.00015
NM_000312.4(PROC):c.889G>C (p.Asp297His) rs199469471 0.00013
NM_000312.4(PROC):c.1234G>A (p.Gly412Ser) rs139741458 0.00011
NM_000312.4(PROC):c.927C>T (p.Ala309=) rs200731614 0.00011
NM_000312.4(PROC):c.113G>A (p.Arg38Gln) rs773107370 0.00010
NM_000312.4(PROC):c.226G>A (p.Val76Met) rs121918149 0.00008
NM_000312.4(PROC):c.322C>A (p.His108Asn) rs200234655 0.00007
NM_000312.4(PROC):c.52G>A (p.Gly18Ser) rs146793243 0.00006
NM_000312.4(PROC):c.541T>G (p.Phe181Val) rs199469470 0.00005
NM_000312.4(PROC):c.534A>G (p.Ala178=) rs368367611 0.00004
NM_000312.4(PROC):c.580C>T (p.Arg194Cys) rs371071104 0.00004
NM_000312.4(PROC):c.386G>A (p.Arg129His) rs746190838 0.00003
NM_000312.4(PROC):c.752C>T (p.Ala251Val) rs568121876 0.00003
NM_000312.4(PROC):c.160A>T (p.Ser54Cys) rs376049280 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.1106C>T (p.Pro369Leu) rs1211098698 0.00001
NM_000312.4(PROC):c.1241G>C (p.Trp414Ser) rs768759265 0.00001
NM_000312.4(PROC):c.124C>T (p.Arg42Cys) rs774572099 0.00001
NM_000312.4(PROC):c.1333A>C (p.Ile445Leu) rs200012319 0.00001
NM_000312.4(PROC):c.1335C>G (p.Ile445Met) rs121918157 0.00001
NM_000312.4(PROC):c.340G>C (p.Gly114Arg) rs374476971 0.00001
NM_000312.4(PROC):c.372C>G (p.Ser124Arg) rs939496684 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.881G>A (p.Ser294Asn) rs200721675 0.00001
NM_000312.4(PROC):c.1027G>A (p.Gly343Ser) rs121918147
NM_000312.4(PROC):c.1163C>T (p.Ala388Val) rs769277939
NM_000312.4(PROC):c.185A>C (p.Glu62Ala) rs121918148
NM_000312.4(PROC):c.263-28T>G rs2104952137
NM_000312.4(PROC):c.303C>A (p.Cys101Ter) rs764808999
NM_000312.4(PROC):c.505G>T (p.Gly169Trp) rs989908811
NM_000312.4(PROC):c.520C>T (p.Gln174Ter) rs1434042239
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
PROC, ARG12TRP

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