ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as likely pathogenic by Counsyl

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239 0.00005
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749 0.00003
NM_000091.5(COL4A3):c.2535del (p.Leu846fs) rs993103826 0.00002
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010 0.00002
NM_000091.5(COL4A3):c.4803del (p.Gly1602fs) rs760846085 0.00002
NM_000091.5(COL4A3):c.145-2_145-1del rs1491486533 0.00001
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000091.5(COL4A3):c.1927+2T>C rs1158937060 0.00001
NM_000091.5(COL4A3):c.2747-1G>C rs1196996393 0.00001
NM_000091.5(COL4A3):c.3210+1G>A rs1553762314 0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176 0.00001
NM_000091.5(COL4A3):c.3751+1G>A rs781566652 0.00001
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513 0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 0.00001
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs) rs756133651 0.00001
NM_000091.5(COL4A3):c.1143_1150+1del rs1274459294
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.5(COL4A3):c.1370_1378del (p.Leu457_Ser459del) rs1553755767
NM_000091.5(COL4A3):c.1758+1G>A rs1553757096
NM_000091.5(COL4A3):c.1806_1814del (p.603SPG[1]) rs1444785718
NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg) rs1553758919
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.5(COL4A3):c.2223+1G>A rs1553759476
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) rs1306992119
NM_000091.5(COL4A3):c.2328_2336del (p.772LPG[2]) rs1553759665
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.279+1G>A rs202001097
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs) rs1553760802
NM_000091.5(COL4A3):c.309_317del (p.Ser104_Gly106del) rs1553750572
NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter) rs1553762279
NM_000091.5(COL4A3):c.3211-1G>C rs1553762936
NM_000091.5(COL4A3):c.325-1G>A rs762518741
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.5(COL4A3):c.388-1G>T rs1553750900
NM_000091.5(COL4A3):c.3883-2A>G rs1553765265
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.5(COL4A3):c.4640+1G>A rs1553766404
NM_000091.5(COL4A3):c.468+1G>A rs1553751122
NM_000091.5(COL4A3):c.468+1G>T rs1553751122
NM_000091.5(COL4A3):c.468+1del rs1553751120
NM_000091.5(COL4A3):c.4756-1G>A rs1553766735
NM_000091.5(COL4A3):c.4802del (p.Pro1601fs) rs867868993
NM_000091.5(COL4A3):c.4872C>G (p.Tyr1624Ter) rs1351781261
NM_000091.5(COL4A3):c.645+2T>C rs1553752199
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000091.5(COL4A3):c.713dup (p.Pro240fs) rs988439345
NM_000091.5(COL4A3):c.829-2A>C rs1553753119
NM_000091.5(COL4A3):c.890G>A (p.Gly297Glu) rs1422638161

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