ClinVar Miner

List of variants reported as pathogenic by Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) rs541276426 0.00041
NM_014251.3(SLC25A13):c.615+5G>A rs80338717 0.00003
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_014251.3(SLC25A13):c.1177+1G>A rs80338722 0.00001
NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met) rs768922690 0.00001
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) rs80338725 0.00001
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln) rs121908532 0.00001
NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser) rs67445413
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000214.3(JAG1):c.3452del (p.Thr1151fs)
NM_000548.5(TSC2):c.4223G>A (p.Gly1408Asp)
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro) rs1564788957
NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe) rs1798490375
NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter) rs540149539
NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCA
NM_014251.3(SLC25A13):c.70-63_132del
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_014251.3(SLC25A13):c.[1956C>A;1962del]

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