ClinVar Miner

List of variants reported as likely pathogenic for secondary avascular necrosis by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NC_000001.11:g.173917430G>C
NM_000488.4(SERPINC1):c.1057C>T (p.Pro353Ser) rs2102782517
NM_000488.4(SERPINC1):c.1058C>T (p.Pro353Leu)
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro) rs121909565
NM_000488.4(SERPINC1):c.1153+1G>A
NM_000488.4(SERPINC1):c.1153+5G>T rs1572088348
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr) rs1449772752
NM_000488.4(SERPINC1):c.1277C>G (p.Ser426Trp) rs121909550
NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu) rs121909550
NM_000488.4(SERPINC1):c.1302C>A (p.Phe434Leu)
NM_000488.4(SERPINC1):c.1315C>G (p.Pro439Ala) rs1487411568
NM_000488.4(SERPINC1):c.272C>T (p.Ala91Val)
NM_000488.4(SERPINC1):c.41+5G>A
NM_000488.4(SERPINC1):c.452T>A (p.Ile151Asn)
NM_000488.4(SERPINC1):c.536T>C (p.Phe179Ser) rs483352847
NM_000488.4(SERPINC1):c.536T>G (p.Phe179Cys)
NM_000488.4(SERPINC1):c.580A>C (p.Ser194Arg)
NM_000488.4(SERPINC1):c.641C>A (p.Ser214Tyr) rs483352854
NM_000488.4(SERPINC1):c.679G>A (p.Glu227Lys)
NM_000488.4(SERPINC1):c.749C>T (p.Thr250Ile)
NM_000488.4(SERPINC1):c.851T>C (p.Met284Thr)

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