ClinVar Miner

List of variants studied for inherited thrombophilia by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00167
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00084
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000488.4(SERPINC1):c.1096C>G (p.Gln366Glu) rs565091601 0.00004
NM_000312.4(PROC):c.925G>A (p.Ala309Thr) rs121918146 0.00002
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu) rs1211098698 0.00001
NM_000312.4(PROC):c.980A>T (p.Glu327Val) rs199469480 0.00001
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) rs5017717 0.00001
NM_000488.4(SERPINC1):c.1063T>G (p.Phe355Val) rs1035744320 0.00001
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp) rs768704768 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000488.4(SERPINC1):c.79T>C (p.Trp27Arg) rs1165816584 0.00001
NM_000313.4(PROS1):c.1459G>C (p.Gly487Arg) rs2472115014
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000488.4(SERPINC1):c.-175_-174delTA rs2526613902
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr) rs1449772752
NM_000488.4(SERPINC1):c.266_318del (p.Arg89fs) rs2526594458
NM_000488.4(SERPINC1):c.74G>A (p.Gly25Asp) rs1657927385
NM_000506.5(F2):c.799G>T (p.Gly267Trp) rs759581598

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