ClinVar Miner

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

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460 0.00003
NM_014239.4(EIF2B2):c.818A>G (p.Lys273Arg) rs113994016 0.00002
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239 0.00001
NM_015340.4(LARS2):c.1670A>G (p.Tyr557Cys) rs1269970737 0.00001
NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp) rs774649299 0.00001
GRCh37/hg19 17q24.3(chr17:69458883-69482850)x3
GRCh37/hg19 17q24.3(chr17:69475275-69499520)x3
NC_000002.12:g.44277853_44353364del
NM_000287.4(PEX6):c.371T>C (p.Leu124Pro) rs1770427781
NM_001171613.2(PREPL):c.614_688delinsTTTTA (p.Lys205fs) rs1558502635
NM_001258392.3(CLPB):c.1167+5G>A
NM_001308093.3(GATA4):c.687G>C (p.Trp229Cys) rs1585684790
NM_002485.5(NBN):c.871C>T (p.Gln291Ter) rs1554563822
NM_003722.5(TP63):c.1780C>T (p.Arg594Ter) rs900140738
NM_003722.5(TP63):c.1794G>A (p.Trp598Ter) rs1560311010
NM_003722.5(TP63):c.1939C>T (p.Arg647Cys)
NM_003722.5(TP63):c.290G>C (p.Arg97Pro)
NM_014239.4(EIF2B2):c.514C>T (p.Arg172Ter) rs758398310

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