ClinVar Miner

List of variants in gene combination F12, SLC34A1 reported as likely benign for coagulation protein disease

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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NM_000505.3(F12):c.-3G>A rs201346142
NM_000505.3(F12):c.-57G>C rs41309132
NM_000505.3(F12):c.-62C>T rs187018744
NM_000505.3(F12):c.-8C>T rs369991760
NM_000505.3(F12):c.1018+12G>C rs758462343
NM_000505.3(F12):c.1018+13G>C rs552424629
NM_000505.3(F12):c.1025C>T (p.Pro342Leu) rs2230939
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) rs183643295
NM_000505.3(F12):c.1107G>C (p.Ser369=) rs141473119
NM_000505.3(F12):c.1251-7C>T rs375340260
NM_000505.3(F12):c.1272G>C (p.Thr424=) rs61737766
NM_000505.3(F12):c.1299C>T (p.Asn433=) rs17876033
NM_000505.3(F12):c.1342C>T (p.Arg448Cys) rs115119084
NM_000505.3(F12):c.348C>A (p.Gly116=) rs140243617
NM_000505.3(F12):c.398-12C>T rs56285942
NM_000505.3(F12):c.418C>G (p.Leu140Val) rs35515200
NM_000505.3(F12):c.930G>C (p.Arg310Ser) rs77098327
NM_003052.5(SLC34A1):c.*179G>A rs141664220
NM_003052.5(SLC34A1):c.*361T>C rs539754545
NM_003052.5(SLC34A1):c.*485G>A rs143160780
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220

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