ClinVar Miner

List of variants reported as uncertain significance for coagulation protein disease by Counsyl

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_000128.3(F11):c.-456G>A rs1004061199
NM_000128.3(F11):c.1084G>A (p.Gly362Arg) rs142096488
NM_000128.3(F11):c.1103G>C (p.Gly368Ala) rs748926718
NM_000128.3(F11):c.1135+5G>A rs758515608
NM_000128.3(F11):c.1171G>A (p.Gly391Arg) rs1554083456
NM_000128.3(F11):c.1217A>C (p.His406Pro) rs901732635
NM_000128.3(F11):c.1273T>A (p.Trp425Arg) rs1554083512
NM_000128.3(F11):c.1275G>C (p.Trp425Cys) rs533626812
NM_000128.3(F11):c.1283C>T (p.Thr428Ile) rs1554083516
NM_000128.3(F11):c.1517A>G (p.Asp506Gly) rs281875258
NM_000128.3(F11):c.1546G>A (p.Val516Met) rs200622588
NM_000128.3(F11):c.1627G>A (p.Glu543Lys) rs142952627
NM_000128.3(F11):c.1718G>A (p.Gly573Glu) rs754109115
NM_000128.3(F11):c.1741T>C (p.Cys581Arg) rs1554084164
NM_000128.3(F11):c.1789G>A (p.Glu597Lys) rs281875251
NM_000128.3(F11):c.188C>T (p.Ala63Val) rs281875244
NM_000128.3(F11):c.218+4A>G rs767240420
NM_000128.3(F11):c.302A>G (p.Lys101Arg) rs281875272
NM_000128.3(F11):c.325+5G>T rs372102736
NM_000128.3(F11):c.374A>G (p.Tyr125Cys) rs1554082187
NM_000128.3(F11):c.422C>T (p.Thr141Met) rs200593979
NM_000128.3(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.3(F11):c.484C>T (p.Arg162Cys) rs748139184
NM_000128.3(F11):c.55+6delinsGAG rs1554081299
NM_000128.3(F11):c.599G>A (p.Cys200Tyr) rs757817254
NM_000128.3(F11):c.680G>A (p.Gly227Asp) rs1489595409
NM_000128.3(F11):c.683G>A (p.Arg228Gln) rs281875246
NM_000128.3(F11):c.723C>G (p.Phe241Leu) rs281875265
NM_000128.3(F11):c.756A>T (p.Arg252Ser) rs1441160252
NM_000128.3(F11):c.783G>C (p.Glu261Asp) rs201079681
NM_000128.3(F11):c.803G>A (p.Arg268His) rs201688862
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000128.3(F11):c.977G>A (p.Arg326His) rs1554082932

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