ClinVar Miner

List of variants in gene CHM reported as uncertain significance for X-linked disease

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000390.4(CHM):c.825G>A (p.Pro275=) rs145268507 0.00132
NM_000390.4(CHM):c.1349+10C>T rs376129971 0.00050
NM_000390.4(CHM):c.1771-4C>T rs376625115 0.00009
NM_000390.4(CHM):c.10A>G (p.Thr4Ala) rs746300399 0.00004
NM_000390.4(CHM):c.182A>C (p.Glu61Ala) rs372819339 0.00004
NM_000390.4(CHM):c.189+5A>G rs757833413 0.00003
NM_000390.4(CHM):c.582A>G (p.Glu194=) rs1444964030 0.00003
NM_000390.4(CHM):c.1008T>C (p.Ile336=) rs749991144 0.00002
NM_000390.4(CHM):c.1217G>A (p.Cys406Tyr) rs754257889 0.00002
NM_000390.4(CHM):c.127T>C (p.Tyr43His) rs780259893 0.00001
NM_000390.4(CHM):c.1574A>G (p.Gln525Arg) rs1309166998 0.00001
NM_000390.4(CHM):c.1648C>G (p.Leu550Val) rs186479811 0.00001
NM_000390.4(CHM):c.1664G>C (p.Arg555Thr) rs143212912 0.00001
NM_000390.4(CHM):c.1782T>C (p.Leu594=) rs781107287 0.00001
NM_000390.4(CHM):c.1893A>G (p.Ile631Met) rs778210722 0.00001
NM_000390.4(CHM):c.502G>C (p.Glu168Gln) rs1023827317 0.00001
NM_000390.4(CHM):c.962A>G (p.Tyr321Cys) rs150754372 0.00001
NM_000390.4(CHM):c.1245-8_1245-6del rs766694606
NM_000390.4(CHM):c.1275G>C (p.Gln425His) rs763252149
NM_000390.4(CHM):c.1645G>C (p.Ala549Pro) rs1603234322
NM_000390.4(CHM):c.1714G>A (p.Val572Ile) rs2148120495
NM_000390.4(CHM):c.1960T>C (p.Ter654Gln) rs1168750683
NM_000390.4(CHM):c.5C>T (p.Ala2Val) rs1185313651
NM_000390.4(CHM):c.926C>T (p.Pro309Leu) rs1930084200

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