ClinVar Miner

List of variants reported as likely pathogenic for inherited focal segmental glomerulosclerosis by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NC_000010.10:g.(?_102510431)_(102510668_?)del
NC_000010.10:g.(?_102539235)_(102569013_?)dup
NC_000010.10:g.(?_102566167)_(102566382_?)dup
NM_000278.5(PAX2):c.212+1G>T
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup) rs387906530
NM_000278.5(PAX2):c.44-2A>G
NM_000278.5(PAX2):c.70G>A (p.Gly24Arg) rs1845366198
NM_000278.5(PAX2):c.71G>T (p.Gly24Val)
NM_022489.4(INF2):c.218G>A (p.Gly73Asp)
NM_022489.4(INF2):c.314T>A (p.Val105Glu) rs1555373363
NM_022489.4(INF2):c.397G>A (p.Asp133Asn) rs774135330
NM_022489.4(INF2):c.470G>A (p.Gly157Asp) rs2140647207

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