ClinVar Miner

List of variants reported as likely pathogenic for cardiac-urogenital syndrome

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001127392.3(MYRF):c.1318_1319delinsA (p.Ala440fs)
NM_001127392.3(MYRF):c.1576C>T (p.Arg526Cys)
NM_001127392.3(MYRF):c.1702del (p.Asp568fs) rs2135840297
NM_001127392.3(MYRF):c.2042C>A (p.Ala681Asp) rs2066476573
NM_001127392.3(MYRF):c.2074C>G (p.Leu692Val) rs1162309498
NM_001127392.3(MYRF):c.3208del (p.Val1070fs) rs2135897895
NM_001127392.3(MYRF):c.643del (p.His215fs) rs2135782176
NM_001127392.3(MYRF):c.965G>A (p.Trp322Ter) rs2135791768

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