ClinVar Miner

List of variants reported as benign for Renal carnitine transport defect

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.*843T>C rs274548 0.74357
NM_003060.4(SLC22A5):c.*1340A>T rs274547 0.74351
NM_003060.4(SLC22A5):c.*959_*960insC rs144261584 0.73243
NM_003060.4(SLC22A5):c.-207C>G rs2631367 0.58257
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=) rs2631365 0.42203
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=) rs274558 0.39440
NM_003060.4(SLC22A5):c.652+77A>G rs274559 0.39418
NM_003060.4(SLC22A5):c.824+13T>C rs274557 0.39418
NM_003060.4(SLC22A5):c.*47C>T rs1045020 0.09512
NM_003060.4(SLC22A5):c.394-296C>T rs2073642 0.07739
NM_003060.4(SLC22A5):c.-107G>T rs13180186 0.07430
NM_003060.4(SLC22A5):c.-139G>T rs13180169 0.07424
NM_003060.4(SLC22A5):c.-77G>A rs13180295 0.07424
NM_003060.4(SLC22A5):c.-78C>T rs13180043 0.07424
NC_000005.10:g.132369028T>G rs34786243 0.06993
NM_003060.4(SLC22A5):c.1052+101A>G rs2073645 0.06948
NM_003060.4(SLC22A5):c.1268-34A>G rs11568515 0.03088
NM_003060.4(SLC22A5):c.1587-38A>C rs11568523 0.03088
NM_003060.4(SLC22A5):c.393+17G>A rs11568522 0.02888
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525 0.02345
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_003060.4(SLC22A5):c.1451-16G>A rs140988771 0.00371
NM_003060.4(SLC22A5):c.1249A>G (p.Met417Val) rs139775414 0.00365
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His) rs144020613 0.00362
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=) rs142355575 0.00335
NM_003060.4(SLC22A5):c.1590G>T (p.Met530Ile) rs148233131 0.00335
NM_003060.4(SLC22A5):c.1434C>T (p.Pro478=) rs140495935 0.00202
NM_003060.4(SLC22A5):c.-234C>G rs4646300 0.00165
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu) rs75783492 0.00016
NM_003060.4(SLC22A5):c.1284T>A (p.Ala428=) rs780429964 0.00007
NM_003060.4(SLC22A5):c.1125C>T (p.Asn375=) rs202219455 0.00001
NM_003060.4(SLC22A5):c.*92del rs142209594
NM_003060.4(SLC22A5):c.1268-38del rs11568517
NM_003060.4(SLC22A5):c.393+15dup
NM_003060.4(SLC22A5):c.652+6= rs4551059
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=) rs121908893
NM_015528.3(RNF167):c.833dup (p.Pro279fs) rs1057519428

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