ClinVar Miner

List of variants in gene CFHR5 studied for abdominal and pelvic region disorder

Included ClinVar conditions (891):
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Gene type:
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Total variants: 40
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HGVS dbSNP
CFHR5, EX2-3DUP
NM_030787.3(CFHR5):c.*237T>C rs886045752
NM_030787.3(CFHR5):c.*324T>C rs886045753
NM_030787.3(CFHR5):c.*362A>G rs886045754
NM_030787.3(CFHR5):c.*397C>G rs115744316
NM_030787.3(CFHR5):c.*426_*427delGA rs886045755
NM_030787.3(CFHR5):c.*502C>T rs561492578
NM_030787.3(CFHR5):c.*619G>A rs550863021
NM_030787.3(CFHR5):c.*741T>G rs117389812
NM_030787.3(CFHR5):c.*745C>A rs886045756
NM_030787.3(CFHR5):c.*802T>G rs10922153
NM_030787.3(CFHR5):c.*866G>A rs534182452
NM_030787.3(CFHR5):c.*966G>A rs886045757
NM_030787.3(CFHR5):c.-20T>C rs9427662
NM_030787.3(CFHR5):c.-76_-75delGT rs551454946
NM_030787.3(CFHR5):c.120C>A (p.Asn40Lys) rs200176406
NM_030787.3(CFHR5):c.1350G>A (p.Gly450=) rs77159278
NM_030787.3(CFHR5):c.1560G>A (p.Gln520=) rs202093724
NM_030787.3(CFHR5):c.1586T>G (p.Leu529Arg) rs16840956
NM_030787.3(CFHR5):c.1641G>A (p.Ala547=) rs74323799
NM_030787.3(CFHR5):c.243G>A (p.Pro81=) rs7532068
NM_030787.3(CFHR5):c.254-8T>G rs114023763
NM_030787.3(CFHR5):c.329T>C (p.Val110Ala) rs140691305
NM_030787.3(CFHR5):c.330A>C (p.Val110=) rs61745675
NM_030787.3(CFHR5):c.384G>T (p.Ser128=) rs147791058
NM_030787.3(CFHR5):c.429T>C (p.Thr143=) rs140215003
NM_030787.3(CFHR5):c.434G>A (p.Gly145Glu) rs57960694
NM_030787.3(CFHR5):c.485_486dupAA (p.Glu163Lysfs) rs565457964
NM_030787.3(CFHR5):c.486dupA (p.Glu163Argfs) rs565457964
NM_030787.3(CFHR5):c.507C>T (p.Asp169=) rs34533956
NM_030787.3(CFHR5):c.51G>A (p.Gly17=) rs886045748
NM_030787.3(CFHR5):c.608-3T>A rs375481393
NM_030787.3(CFHR5):c.622T>C (p.Cys208Arg) rs41299613
NM_030787.3(CFHR5):c.647A>G (p.Asn216Ser) rs147488267
NM_030787.3(CFHR5):c.647A>T (p.Asn216Ile) rs147488267
NM_030787.3(CFHR5):c.678delA (p.Glu226Aspfs) rs368209619
NM_030787.3(CFHR5):c.741G>T (p.Lys247Asn) rs886045750
NM_030787.3(CFHR5):c.880G>A (p.Glu294Lys) rs201084185
NM_030787.3(CFHR5):c.903T>C (p.Tyr301=) rs886045751
NM_030787.3(CFHR5):c.993C>A (p.Cys331Ter) rs751010317

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