ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported by Ambry Genetics

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu) rs201607115 0.00132
NM_000091.5(COL4A3):c.136G>A (p.Gly46Arg) rs200866082 0.00067
NM_000091.5(COL4A3):c.532G>A (p.Ala178Thr) rs188324379 0.00023
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr) rs200801946 0.00010
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302 0.00004
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712 0.00003
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val) rs1183958961 0.00001
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter) rs1189607438 0.00001
NM_000091.5(COL4A3):c.4450G>A (p.Gly1484Arg) rs976882559 0.00001
NM_000091.5(COL4A3):c.1217G>A (p.Arg406Gln)
NM_000091.5(COL4A3):c.1379C>T (p.Pro460Leu)
NM_000091.5(COL4A3):c.145G>A (p.Gly49Arg) rs1553749403
NM_000091.5(COL4A3):c.1894G>A (p.Val632Ile)
NM_000091.5(COL4A3):c.2291C>A (p.Ser764Tyr)
NM_000091.5(COL4A3):c.2352T>G (p.Asn784Lys)
NM_000091.5(COL4A3):c.2437C>T (p.Pro813Ser)
NM_000091.5(COL4A3):c.247C>G (p.Leu83Val)
NM_000091.5(COL4A3):c.2497G>A (p.Gly833Ser) rs2072039168
NM_000091.5(COL4A3):c.2608C>G (p.Leu870Val)
NM_000091.5(COL4A3):c.2656+1G>T
NM_000091.5(COL4A3):c.274G>A (p.Val92Ile) rs200873401
NM_000091.5(COL4A3):c.3022C>A (p.Pro1008Thr)
NM_000091.5(COL4A3):c.3184A>G (p.Thr1062Ala)
NM_000091.5(COL4A3):c.3236T>A (p.Met1079Lys)
NM_000091.5(COL4A3):c.3269C>T (p.Pro1090Leu)
NM_000091.5(COL4A3):c.3389T>C (p.Leu1130Pro)
NM_000091.5(COL4A3):c.3515C>T (p.Thr1172Met)
NM_000091.5(COL4A3):c.3722G>A (p.Arg1241His)
NM_000091.5(COL4A3):c.3908C>G (p.Pro1303Arg)
NM_000091.5(COL4A3):c.4033C>T (p.Arg1345Cys)
NM_000091.5(COL4A3):c.419C>T (p.Thr140Ile)
NM_000091.5(COL4A3):c.4211C>T (p.Pro1404Leu)
NM_000091.5(COL4A3):c.4276C>A (p.Pro1426Thr)
NM_000091.5(COL4A3):c.4294C>G (p.Arg1432Gly)
NM_000091.5(COL4A3):c.4426G>A (p.Val1476Ile)
NM_000091.5(COL4A3):c.4661C>G (p.Pro1554Arg) rs1221621618
NM_000091.5(COL4A3):c.4862C>T (p.Thr1621Met)
NM_000091.5(COL4A3):c.824C>T (p.Pro275Leu)
NM_000091.5(COL4A3):c.876C>A (p.Asp292Glu)
NM_000091.5(COL4A3):c.935G>C (p.Gly312Ala)
NM_000091.5(COL4A3):c.943G>C (p.Gly315Arg)

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