ClinVar Miner

List of variants reported as likely pathogenic by Reproductive Development, Murdoch Childrens Research Institute

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746 0.00354
NM_020401.4(NUP107):c.1064G>A (p.Arg355His) rs747135247 0.00020
NM_015340.4(LARS2):c.1237G>A (p.Glu413Lys) rs376296747 0.00003
NM_015971.4(MRPS7):c.536G>A (p.Arg179His) rs752619610 0.00003
NM_032485.6(MCM8):c.1953+1G>C rs775156125 0.00002
NM_001171251.3(HROB):c.421del (p.Glu141fs) rs762836620 0.00001
NM_001017975.6(HFM1):c.2410G>T (p.Glu804Ter) rs763964671
NM_001048205.2(REC8):c.1035_1036dup (p.Ala346fs) rs2138794849
NM_001048205.2(REC8):c.624+1G>A rs2139132972
NM_001282717.2(STAG3):c.962G>A (p.Arg321His) rs1031011371
NM_006012.4(CLPP):c.439T>A (p.Cys147Ser) rs2091852209
NM_014706.4(SART3):c.1477C>T (p.Arg493Trp)
NM_014706.4(SART3):c.1555A>G (p.Arg519Gly)
NM_014706.4(SART3):c.2153C>T (p.Pro718Leu)
NM_014706.4(SART3):c.2299C>T (p.Arg767Trp)
NM_014706.4(SART3):c.2507G>A (p.Arg836Gln)
NM_014706.4(SART3):c.631G>A (p.Glu211Lys)
NM_014706.4(SART3):c.646T>C (p.Ser216Pro)
NM_014706.4(SART3):c.757C>T (p.Arg253Ter)
NM_015971.4(MRPS7):c.373A>T (p.Lys125Ter)
NM_019051.3(MRPL50):c.335T>A (p.Val112Asp)

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