ClinVar Miner

List of variants reported as benign for Autosomal recessive congenital ichthyosis 1 by Natera, Inc.

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000359.3(TGM1):c.-182C>T rs2273301 0.05480
NM_000359.3(TGM1):c.726G>A (p.Glu242=) rs35755034 0.04892
NM_000359.3(TGM1):c.366G>A (p.Ser122=) rs17102410 0.03062
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_000359.3(TGM1):c.54G>A (p.Gln18=) rs41295336 0.00761
NM_000359.3(TGM1):c.2264C>T (p.Ser755Leu) rs35926651 0.00599
NM_000359.3(TGM1):c.285C>T (p.Ser95=) rs2228336 0.00581
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759 0.00555
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu) rs141486741 0.00492
NM_000359.3(TGM1):c.1645+5C>A rs187575724 0.00468
NM_000359.3(TGM1):c.168G>A (p.Ala56=) rs79251149 0.00439
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338 0.00428
NM_000359.3(TGM1):c.1113C>T (p.Ser371=) rs61747601 0.00421
NM_000359.3(TGM1):c.1819C>T (p.Arg607Cys) rs2229464 0.00382
NM_000359.3(TGM1):c.2405A>T (p.Asp802Val) rs2228337 0.00273
NM_000359.3(TGM1):c.394G>A (p.Asp132Asn) rs2229462 0.00244
NM_000359.3(TGM1):c.429C>T (p.Arg143=) rs144989372 0.00239
NM_000359.3(TGM1):c.1298+9G>A rs201015655 0.00140
NM_000359.3(TGM1):c.432G>A (p.Gly144=) rs141559048 0.00102
NM_000359.3(TGM1):c.2258G>A (p.Arg753His) rs202020907 0.00029
NM_000359.3(TGM1):c.319+8C>T rs41295342 0.00021
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser) rs200517023 0.00006
NM_000359.3(TGM1):c.66G>A (p.Thr22=) rs756448718 0.00006
NM_000359.3(TGM1):c.1146C>A (p.Gly382=) rs1126432

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