ClinVar Miner

List of variants in gene COL4A2 studied for Inborn genetic diseases

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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.1375G>A (p.Ala459Thr) rs202017641 0.00179
NM_001846.4(COL4A2):c.3920C>G (p.Pro1307Arg) rs201627758 0.00138
NM_001846.4(COL4A2):c.315+4C>T rs145900757 0.00091
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00043
NM_001846.4(COL4A2):c.1532C>T (p.Pro511Leu) rs373398289 0.00037
NM_001846.4(COL4A2):c.4916C>T (p.Ser1639Leu) rs77786415 0.00024
NM_001846.4(COL4A2):c.4915T>C (p.Ser1639Pro) rs756772866 0.00014
NM_001846.4(COL4A2):c.4985G>A (p.Arg1662His) rs200192119 0.00012
NM_001846.4(COL4A2):c.143G>T (p.Ser48Ile) rs1053256164 0.00011
NM_001846.4(COL4A2):c.4456G>A (p.Val1486Ile) rs201426733 0.00011
NM_001846.4(COL4A2):c.2200C>T (p.Pro734Ser) rs761169216 0.00008
NM_001846.4(COL4A2):c.1957G>A (p.Ala653Thr) rs199875726 0.00006
NM_001846.4(COL4A2):c.2180G>A (p.Arg727His) rs774443437 0.00006
NM_001846.4(COL4A2):c.242C>T (p.Pro81Leu) rs750061237 0.00006
NM_001846.4(COL4A2):c.2477C>G (p.Pro826Arg) rs1020176452 0.00005
NM_001846.4(COL4A2):c.290G>A (p.Gly97Glu) rs749501904 0.00005
NM_001846.4(COL4A2):c.1513G>A (p.Ala505Thr) rs753867828 0.00004
NM_001846.4(COL4A2):c.4623C>G (p.Phe1541Leu) rs201158095 0.00003
NM_001846.4(COL4A2):c.5042A>G (p.Glu1681Gly) rs777905652 0.00003
NM_001846.4(COL4A2):c.2344G>A (p.Gly782Arg) rs768662646 0.00002
NM_001846.4(COL4A2):c.4744G>A (p.Glu1582Lys) rs376636910 0.00002
NM_001846.4(COL4A2):c.1738G>A (p.Asp580Asn) rs766981913 0.00001
NM_001846.4(COL4A2):c.1879G>A (p.Gly627Ser) rs771559117 0.00001
NM_001846.4(COL4A2):c.2176G>C (p.Gly726Arg) rs770946467 0.00001
NM_001846.4(COL4A2):c.2326G>C (p.Val776Leu) rs1882540552 0.00001
NM_001846.4(COL4A2):c.3817C>G (p.Pro1273Ala) rs201442362 0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_001846.4(COL4A2):c.1139C>T (p.Pro380Leu)
NM_001846.4(COL4A2):c.1208C>T (p.Pro403Leu) rs772448912
NM_001846.4(COL4A2):c.1259T>C (p.Leu420Pro)
NM_001846.4(COL4A2):c.1307C>T (p.Pro436Leu)
NM_001846.4(COL4A2):c.1370G>A (p.Gly457Glu)
NM_001846.4(COL4A2):c.1467C>G (p.Asp489Glu)
NM_001846.4(COL4A2):c.1561G>A (p.Gly521Ser)
NM_001846.4(COL4A2):c.1570G>C (p.Gly524Arg)
NM_001846.4(COL4A2):c.1613T>C (p.Ile538Thr)
NM_001846.4(COL4A2):c.163C>A (p.Pro55Thr)
NM_001846.4(COL4A2):c.1705G>A (p.Gly569Arg)
NM_001846.4(COL4A2):c.1784G>C (p.Gly595Ala)
NM_001846.4(COL4A2):c.1854G>T (p.Met618Ile)
NM_001846.4(COL4A2):c.1974A>C (p.Gln658His)
NM_001846.4(COL4A2):c.2001G>C (p.Arg667Ser)
NM_001846.4(COL4A2):c.2005G>A (p.Val669Ile)
NM_001846.4(COL4A2):c.2051G>C (p.Gly684Ala)
NM_001846.4(COL4A2):c.2080C>T (p.Pro694Ser)
NM_001846.4(COL4A2):c.2219G>A (p.Arg740Gln)
NM_001846.4(COL4A2):c.2285G>C (p.Gly762Ala)
NM_001846.4(COL4A2):c.2297C>T (p.Pro766Leu)
NM_001846.4(COL4A2):c.2350C>T (p.Arg784Trp)
NM_001846.4(COL4A2):c.2357A>T (p.Asp786Val)
NM_001846.4(COL4A2):c.2383C>T (p.Leu795Phe) rs1340849111
NM_001846.4(COL4A2):c.2384T>C (p.Leu795Pro)
NM_001846.4(COL4A2):c.2840G>A (p.Gly947Asp)
NM_001846.4(COL4A2):c.2908C>T (p.Arg970Ter)
NM_001846.4(COL4A2):c.313G>T (p.Val105Leu)
NM_001846.4(COL4A2):c.3169C>T (p.Pro1057Ser)
NM_001846.4(COL4A2):c.3242A>G (p.Tyr1081Cys)
NM_001846.4(COL4A2):c.3277A>G (p.Ile1093Val)
NM_001846.4(COL4A2):c.3295T>G (p.Leu1099Val)
NM_001846.4(COL4A2):c.3305G>T (p.Arg1102Ile)
NM_001846.4(COL4A2):c.3412G>A (p.Val1138Met)
NM_001846.4(COL4A2):c.3416C>A (p.Thr1139Asn)
NM_001846.4(COL4A2):c.349G>A (p.Asp117Asn) rs374976511
NM_001846.4(COL4A2):c.3610A>G (p.Thr1204Ala)
NM_001846.4(COL4A2):c.3667G>T (p.Gly1223Cys)
NM_001846.4(COL4A2):c.3673C>T (p.Pro1225Ser)
NM_001846.4(COL4A2):c.37C>G (p.Leu13Val)
NM_001846.4(COL4A2):c.3829T>A (p.Ser1277Thr)
NM_001846.4(COL4A2):c.3884G>A (p.Arg1295Gln)
NM_001846.4(COL4A2):c.3892C>A (p.Pro1298Thr)
NM_001846.4(COL4A2):c.4007G>A (p.Arg1336Lys)
NM_001846.4(COL4A2):c.410G>A (p.Cys137Tyr)
NM_001846.4(COL4A2):c.4235C>T (p.Pro1412Leu)
NM_001846.4(COL4A2):c.4383G>T (p.Gln1461His)
NM_001846.4(COL4A2):c.4450C>T (p.Arg1484Cys)
NM_001846.4(COL4A2):c.4493C>T (p.Thr1498Met)
NM_001846.4(COL4A2):c.4583A>G (p.Asn1528Ser)
NM_001846.4(COL4A2):c.4618C>T (p.Arg1540Trp)
NM_001846.4(COL4A2):c.4648A>G (p.Asn1550Asp)
NM_001846.4(COL4A2):c.465C>A (p.Phe155Leu)
NM_001846.4(COL4A2):c.4684G>A (p.Asp1562Asn)
NM_001846.4(COL4A2):c.4741G>A (p.Asp1581Asn)
NM_001846.4(COL4A2):c.4754C>G (p.Pro1585Arg)
NM_001846.4(COL4A2):c.4766G>A (p.Arg1589His)
NM_001846.4(COL4A2):c.4886C>T (p.Thr1629Met)
NM_001846.4(COL4A2):c.49C>G (p.Leu17Val) rs200430407
NM_001846.4(COL4A2):c.547C>T (p.Arg183Trp)
NM_001846.4(COL4A2):c.826-1G>T
NM_001846.4(COL4A2):c.859A>G (p.Arg287Gly)
NM_001846.4(COL4A2):c.89G>A (p.Ser30Asn)
NM_001846.4(COL4A2):c.932G>A (p.Gly311Asp)
NM_001846.4(COL4A2):c.940G>C (p.Gly314Arg)

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