ClinVar Miner

List of variants studied for secondary avascular necrosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.1011A>G (p.Gln337=) rs5878 0.48194
NM_000488.4(SERPINC1):c.981A>G (p.Val327=) rs5877 0.48114
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_000488.4(SERPINC1):c.678C>T (p.Thr226=) rs2227627 0.00045
NM_000488.4(SERPINC1):c.1005G>A (p.Val335=) rs192187532 0.00031
NM_000488.4(SERPINC1):c.-57G>A rs372524963 0.00029
NM_000488.4(SERPINC1):c.29C>A (p.Thr10Asn) rs61736655 0.00029
NM_000488.4(SERPINC1):c.870C>T (p.Phe290=) rs370190321 0.00026
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000488.4(SERPINC1):c.1066C>T (p.Arg356Cys) rs376752370 0.00013
NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly) rs369524182 0.00009
NM_000488.4(SERPINC1):c.47T>C (p.Val16Ala) rs531137446 0.00008
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000488.3(SERPINC1):c.-88G>A rs376206880 0.00005
NM_000488.4(SERPINC1):c.886G>C (p.Ala296Pro) rs372820797 0.00005
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000488.4(SERPINC1):c.1096C>G (p.Gln366Glu) rs565091601 0.00004
NM_000488.4(SERPINC1):c.1172G>A (p.Arg391Gln) rs201541724 0.00004
NM_000488.4(SERPINC1):c.594T>C (p.Tyr198=) rs183416252 0.00003
NM_000488.4(SERPINC1):c.1054A>G (p.Met352Val) rs886045594 0.00001
NM_000488.4(SERPINC1):c.1342C>T (p.Pro448Ser) rs376029223 0.00001
NM_000488.4(SERPINC1):c.233G>A (p.Arg78Gln) rs774294043 0.00001
NM_000488.4(SERPINC1):c.408+4C>T rs201551398 0.00001
NM_000488.4(SERPINC1):c.914C>A (p.Pro305His) rs549991084 0.00001
NM_000488.4(SERPINC1):c.975C>G (p.Ala325=) rs200857896 0.00001

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