ClinVar Miner

List of variants in gene COL4A4 studied for Inborn genetic diseases

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704 0.00038
NM_000092.5(COL4A4):c.1246C>G (p.Pro416Ala) rs372841765 0.00018
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu) rs371717486 0.00016
NM_000092.5(COL4A4):c.338G>A (p.Gly113Asp) rs766085522 0.00011
NM_000092.5(COL4A4):c.3914C>T (p.Pro1305Leu) rs746621296 0.00009
NM_000092.5(COL4A4):c.3037C>T (p.His1013Tyr) rs751663801 0.00008
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262 0.00008
NM_000092.5(COL4A4):c.2929C>G (p.Pro977Ala) rs769300622 0.00005
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454 0.00004
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472 0.00004
NM_000092.5(COL4A4):c.2378C>T (p.Ala793Val) rs377676207 0.00001
NM_000092.5(COL4A4):c.4070C>T (p.Thr1357Ile) rs1258564025 0.00001
NM_000092.5(COL4A4):c.1205G>A (p.Gly402Asp)
NM_000092.5(COL4A4):c.1567C>T (p.Leu523Phe)
NM_000092.5(COL4A4):c.161T>G (p.Val54Gly)
NM_000092.5(COL4A4):c.1922G>A (p.Arg641Gln)
NM_000092.5(COL4A4):c.2192G>T (p.Gly731Val) rs1976367934
NM_000092.5(COL4A4):c.2410G>A (p.Gly804Ser)
NM_000092.5(COL4A4):c.2639C>G (p.Ala880Gly)
NM_000092.5(COL4A4):c.2647C>G (p.Pro883Ala)
NM_000092.5(COL4A4):c.2651C>T (p.Pro884Leu)
NM_000092.5(COL4A4):c.2668C>G (p.Pro890Ala)
NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser)
NM_000092.5(COL4A4):c.2860G>A (p.Gly954Arg) rs2150219187
NM_000092.5(COL4A4):c.3085C>T (p.Pro1029Ser)
NM_000092.5(COL4A4):c.3086dup (p.Gly1030fs)
NM_000092.5(COL4A4):c.3120C>A (p.Phe1040Leu)
NM_000092.5(COL4A4):c.313G>A (p.Asp105Asn)
NM_000092.5(COL4A4):c.3167C>T (p.Pro1056Leu)
NM_000092.5(COL4A4):c.3304T>A (p.Ser1102Thr)
NM_000092.5(COL4A4):c.332C>T (p.Pro111Leu)
NM_000092.5(COL4A4):c.3407G>C (p.Gly1136Ala)
NM_000092.5(COL4A4):c.3447C>A (p.Asp1149Glu)
NM_000092.5(COL4A4):c.3557A>G (p.Lys1186Arg)
NM_000092.5(COL4A4):c.3769C>T (p.Pro1257Ser)
NM_000092.5(COL4A4):c.3802C>T (p.Pro1268Ser)
NM_000092.5(COL4A4):c.3817G>A (p.Gly1273Arg)
NM_000092.5(COL4A4):c.4232C>G (p.Pro1411Arg)
NM_000092.5(COL4A4):c.4378C>T (p.Pro1460Ser)
NM_000092.5(COL4A4):c.4432C>T (p.Pro1478Ser)
NM_000092.5(COL4A4):c.4610A>G (p.Asn1537Ser)
NM_000092.5(COL4A4):c.4636G>A (p.Ala1546Thr)
NM_000092.5(COL4A4):c.4720C>A (p.Gln1574Lys)
NM_000092.5(COL4A4):c.4762T>A (p.Cys1588Ser)
NM_000092.5(COL4A4):c.4782C>G (p.Ser1594Arg) rs200799557
NM_000092.5(COL4A4):c.494A>T (p.His165Leu)
NM_000092.5(COL4A4):c.713T>C (p.Val238Ala)
NM_000092.5(COL4A4):c.728G>A (p.Gly243Glu)
NM_000092.5(COL4A4):c.803A>G (p.Tyr268Cys)
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.868A>T (p.Lys290Ter)
NM_000092.5(COL4A4):c.919C>A (p.Pro307Thr)

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