ClinVar Miner

List of variants reported as likely pathogenic for Kennedy disease by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000044.6(AR):c.1704_1705delinsCT (p.Gly569Trp) rs1925886368
NM_000044.6(AR):c.1705G>T (p.Gly569Trp) rs1555982864
NM_000044.6(AR):c.1743G>C (p.Lys581Asn)
NM_000044.6(AR):c.1805G>A (p.Cys602Tyr) rs1555990470
NM_000044.6(AR):c.1850T>C (p.Leu617Pro) rs1555990488
NM_000044.6(AR):c.2053G>A (p.Val685Ile) rs1555995822
NM_000044.6(AR):c.2087A>T (p.Asp696Val)
NM_000044.6(AR):c.2103G>T (p.Leu701Phe) rs1555995848
NM_000044.6(AR):c.2126G>T (p.Gly709Val) rs2147525149
NM_000044.6(AR):c.2169G>T (p.Leu723Phe)
NM_000044.6(AR):c.2174-2A>G
NM_000044.6(AR):c.2233C>T (p.Leu745Phe)
NM_000044.6(AR):c.2237T>C (p.Met746Thr) rs2147530857
NM_000044.6(AR):c.2239G>A (p.Val747Met) rs1602276233
NM_000044.6(AR):c.2318A>G (p.Glu773Gly) rs2076119092
NM_000044.6(AR):c.2473C>A (p.Gln825Lys)
NM_000044.6(AR):c.2566C>A (p.Arg856Ser) rs886041132
NM_000044.6(AR):c.2698A>T (p.Ile900Phe) rs1555998108
NM_000044.6(AR):c.2710G>A (p.Val904Met)
NM_000044.6(AR):c.2761T>C (p.Ter921Arg)

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