ClinVar Miner

List of variants in gene COL4A4 reported as uncertain significance for not specified

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389 0.00014
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser) rs780504632 0.00007
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841 0.00006
NM_000092.5(COL4A4):c.1394C>T (p.Pro465Leu) rs200411532 0.00006
NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly) rs753208968 0.00006
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) rs745815071 0.00005
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp) rs200817090 0.00005
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454 0.00004
NM_000092.5(COL4A4):c.2717-3C>T rs191634780 0.00004
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516 0.00004
NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn) rs201181725 0.00002
NM_000092.5(COL4A4):c.2347G>A (p.Gly783Arg) rs879255339 0.00001
NM_000092.5(COL4A4):c.3506-8T>G rs761588725 0.00001
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp) rs377511303 0.00001
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln) rs1478610555 0.00001
NM_000092.5(COL4A4):c.485C>T (p.Pro162Leu) rs901711159 0.00001
NM_000092.5(COL4A4):c.-9T>C
NM_000092.5(COL4A4):c.1053C>A (p.His351Gln)
NM_000092.5(COL4A4):c.1459+2C>T rs932962404
NM_000092.5(COL4A4):c.1629G>C (p.Lys543Asn)
NM_000092.5(COL4A4):c.16A>G (p.Ile6Val)
NM_000092.5(COL4A4):c.1738C>T (p.Pro580Ser)
NM_000092.5(COL4A4):c.1825C>G (p.Pro609Ala) rs1263397268
NM_000092.5(COL4A4):c.2285C>T (p.Pro762Leu)
NM_000092.5(COL4A4):c.2647C>T (p.Pro883Ser)
NM_000092.5(COL4A4):c.2932G>C (p.Gly978Arg)
NM_000092.5(COL4A4):c.3289+5A>G
NM_000092.5(COL4A4):c.3357G>C (p.Arg1119Ser)
NM_000092.5(COL4A4):c.3668C>T (p.Pro1223Leu)
NM_000092.5(COL4A4):c.3761T>C (p.Ile1254Thr) rs1575916161
NM_000092.5(COL4A4):c.3844G>T (p.Gly1282Trp) rs777134408
NM_000092.5(COL4A4):c.3923C>G (p.Pro1308Arg)
NM_000092.5(COL4A4):c.3973+17G>A
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.5(COL4A4):c.4067C>T (p.Pro1356Leu)
NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser)
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu) rs190148408
NM_000092.5(COL4A4):c.4851G>C (p.Met1617Ile)
NM_000092.5(COL4A4):c.953C>T (p.Ser318Phe)

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