List of variants reported for Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia due to protein C deficiency, autosomal dominant by Fulgent Genetics, Fulgent Genetics

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
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.1212G>A (p.Gly404=)	rs370637632	0.00016
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.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.386G>A (p.Arg129His)	rs746190838	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.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.340G>C (p.Gly114Arg)	rs374476971	0.00001
NM_000312.4(PROC):c.372C>G (p.Ser124Arg)	rs939496684	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.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

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