ClinVar Miner

List of variants in gene COL4A4 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516 0.03182
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000092.5(COL4A4):c.2056+10A>G rs138869451 0.00161
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=) rs188655353 0.00101
NM_000092.5(COL4A4):c.195T>C (p.Gly65=) rs201278620 0.00082
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=) rs55978207 0.00057
NM_000092.5(COL4A4):c.1460-6G>A rs771213140 0.00008
NM_000092.5(COL4A4):c.2589C>T (p.Pro863=) rs772517977 0.00005
NM_000092.5(COL4A4):c.4578C>T (p.Asn1526=) rs202109186 0.00005
NM_000092.5(COL4A4):c.4962G>A (p.Thr1654=) rs375911030 0.00004
NM_000092.5(COL4A4):c.90C>T (p.Leu30=) rs747805491 0.00004
NM_000092.5(COL4A4):c.372+7A>G rs1483461114 0.00002
NM_000092.5(COL4A4):c.4950C>G (p.Phe1650Leu) rs542384685 0.00002
NM_000092.5(COL4A4):c.1225C>T (p.Pro409Ser) rs377292825 0.00001
NM_000092.5(COL4A4):c.264A>G (p.Ser88=) rs746574978 0.00001
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.2963A>G (p.Glu988Gly) rs1200638480

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