ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 61 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_015161.3(ARL6IP1):c.409-18T>C rs71382566 0.09544
NM_015161.3(ARL6IP1):c.170+12A>T rs17663173 0.07245
NM_015161.3(ARL6IP1):c.204C>T (p.Ser68=) rs138748723 0.00441
NM_015161.3(ARL6IP1):c.494-9T>A rs187822079 0.00117
NM_015161.3(ARL6IP1):c.490A>C (p.Ile164Leu) rs200377377 0.00019
NM_015161.3(ARL6IP1):c.199C>T (p.Leu67=) rs763110010 0.00006
NM_015161.3(ARL6IP1):c.177C>T (p.Ile59=) rs367581150 0.00005
NM_015161.3(ARL6IP1):c.29A>G (p.Asn10Ser) rs200140310 0.00003
NM_015161.3(ARL6IP1):c.171G>A (p.Leu57=) rs767572069 0.00001
NM_015161.3(ARL6IP1):c.205G>A (p.Gly69Ser) rs770346896 0.00001
NM_015161.3(ARL6IP1):c.346C>T (p.Arg116Ter) rs750623911 0.00001
NM_015161.3(ARL6IP1):c.409-2A>G rs767874638 0.00001
NM_015161.3(ARL6IP1):c.566G>A (p.Arg189Lys) rs148872516 0.00001
NC_000016.9:g.(?_18804554)_(18812808_?)dup
NM_015161.3(ARL6IP1):c.113G>A (p.Arg38Gln)
NM_015161.3(ARL6IP1):c.168T>C (p.Phe56=)
NM_015161.3(ARL6IP1):c.170+15A>G
NM_015161.3(ARL6IP1):c.171-9T>A
NM_015161.3(ARL6IP1):c.17A>G (p.Asn6Ser)
NM_015161.3(ARL6IP1):c.207C>T (p.Gly69=)
NM_015161.3(ARL6IP1):c.260T>C (p.Leu87Pro)
NM_015161.3(ARL6IP1):c.263C>T (p.Ala88Val)
NM_015161.3(ARL6IP1):c.26C>G (p.Thr9Ser) rs747185659
NM_015161.3(ARL6IP1):c.291-18G>A
NM_015161.3(ARL6IP1):c.306G>A (p.Gln102=)
NM_015161.3(ARL6IP1):c.324T>G (p.Ile108Met)
NM_015161.3(ARL6IP1):c.345T>C (p.Thr115=) rs758452451
NM_015161.3(ARL6IP1):c.347G>A (p.Arg116Gln)
NM_015161.3(ARL6IP1):c.36+11G>C
NM_015161.3(ARL6IP1):c.36+13dup rs2141875992
NM_015161.3(ARL6IP1):c.36+19T>A
NM_015161.3(ARL6IP1):c.36+20C>T
NM_015161.3(ARL6IP1):c.37-20T>G
NM_015161.3(ARL6IP1):c.390G>A (p.Lys130=)
NM_015161.3(ARL6IP1):c.391G>A (p.Glu131Lys)
NM_015161.3(ARL6IP1):c.408+12G>A
NM_015161.3(ARL6IP1):c.408+17G>T rs202235339
NM_015161.3(ARL6IP1):c.408+4C>G rs1596945553
NM_015161.3(ARL6IP1):c.42A>G (p.Ala14=)
NM_015161.3(ARL6IP1):c.430T>C (p.Ser144Pro)
NM_015161.3(ARL6IP1):c.433C>G (p.Leu145Val)
NM_015161.3(ARL6IP1):c.435T>G (p.Leu145=)
NM_015161.3(ARL6IP1):c.440C>T (p.Ala147Val)
NM_015161.3(ARL6IP1):c.489G>C (p.Leu163=)
NM_015161.3(ARL6IP1):c.493+5G>A
NM_015161.3(ARL6IP1):c.494-14T>C
NM_015161.3(ARL6IP1):c.494-17T>G
NM_015161.3(ARL6IP1):c.494-17dup rs748985230
NM_015161.3(ARL6IP1):c.494-18G>T
NM_015161.3(ARL6IP1):c.494-9del rs748985230
NM_015161.3(ARL6IP1):c.505C>T (p.Leu169=)
NM_015161.3(ARL6IP1):c.510G>A (p.Leu170=)
NM_015161.3(ARL6IP1):c.555A>G (p.Gly185=)
NM_015161.3(ARL6IP1):c.6G>A (p.Ala2=) rs1341666694

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