ClinVar Miner

List of variants in gene combination LOC112577517, TOR1AIP1 reported as likely benign for autosomal recessive limb-girdle muscular dystrophy type 2Y

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala) rs146976883 0.00233
NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu) rs139690983 0.00054
NM_015602.4(TOR1AIP1):c.361G>A (p.Glu121Lys) rs199933063 0.00015
NM_015602.4(TOR1AIP1):c.66G>A (p.Arg22=) rs763572841 0.00006
NM_015602.4(TOR1AIP1):c.252A>T (p.Arg84=) rs140133465 0.00004
NM_015602.4(TOR1AIP1):c.243G>C (p.Val81=) rs780446434 0.00002
NM_015602.4(TOR1AIP1):c.156G>A (p.Gln52=) rs1299122146 0.00001
NM_015602.4(TOR1AIP1):c.192A>G (p.Pro64=) rs372246976 0.00001
NM_015602.4(TOR1AIP1):c.459C>T (p.Asp153=) rs747268474 0.00001
NM_015602.4(TOR1AIP1):c.471T>C (p.Ser157=) rs765595065 0.00001
NM_015602.4(TOR1AIP1):c.114C>T (p.Gly38=)
NM_015602.4(TOR1AIP1):c.126G>A (p.Ala42=)
NM_015602.4(TOR1AIP1):c.141T>A (p.Thr47=)
NM_015602.4(TOR1AIP1):c.147G>A (p.Pro49=)
NM_015602.4(TOR1AIP1):c.159C>G (p.Gly53=) rs1283793684
NM_015602.4(TOR1AIP1):c.15G>A (p.Gly5=)
NM_015602.4(TOR1AIP1):c.183C>T (p.Asp61=)
NM_015602.4(TOR1AIP1):c.246A>T (p.Gly82=) rs1289941681
NM_015602.4(TOR1AIP1):c.24A>G (p.Ala8=) rs1571718503
NM_015602.4(TOR1AIP1):c.259C>T (p.Leu87=)
NM_015602.4(TOR1AIP1):c.261A>G (p.Leu87=)
NM_015602.4(TOR1AIP1):c.267G>A (p.Glu89=) rs1447571663
NM_015602.4(TOR1AIP1):c.273G>C (p.Arg91=)
NM_015602.4(TOR1AIP1):c.276C>T (p.Ser92=)
NM_015602.4(TOR1AIP1):c.27G>A (p.Glu9=) rs1571718505
NM_015602.4(TOR1AIP1):c.285G>A (p.Ala95=) rs1039646770
NM_015602.4(TOR1AIP1):c.30G>T (p.Ala10=) rs376731014
NM_015602.4(TOR1AIP1):c.351G>A (p.Gln117=) rs762074035
NM_015602.4(TOR1AIP1):c.357C>G (p.Thr119=) rs1366999572
NM_015602.4(TOR1AIP1):c.360G>A (p.Glu120=)
NM_015602.4(TOR1AIP1):c.399G>A (p.Gln133=)
NM_015602.4(TOR1AIP1):c.408G>A (p.Glu136=)
NM_015602.4(TOR1AIP1):c.411G>A (p.Gln137=)
NM_015602.4(TOR1AIP1):c.426G>T (p.Pro142=)
NM_015602.4(TOR1AIP1):c.444G>A (p.Arg148=)
NM_015602.4(TOR1AIP1):c.63C>T (p.Pro21=)
NM_015602.4(TOR1AIP1):c.81G>A (p.Glu27=)
NM_015602.4(TOR1AIP1):c.87G>A (p.Arg29=)
NM_015602.4(TOR1AIP1):c.90C>A (p.Gly30=) rs748169407
NM_015602.4(TOR1AIP1):c.93G>A (p.Arg31=)
NM_015602.4(TOR1AIP1):c.93G>C (p.Arg31=)
NM_015602.4(TOR1AIP1):c.99C>T (p.Ala33=) rs1647743624

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