ClinVar Miner

List of variants in gene combination LOC125446261, MLC1 reported by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.216G>A (p.Leu72=) rs78365284 0.00468
NM_015166.4(MLC1):c.230C>T (p.Pro77Leu) rs145484765 0.00015
NM_015166.4(MLC1):c.223G>A (p.Val75Met) rs148848827 0.00011
NM_015166.4(MLC1):c.231G>A (p.Pro77=) rs150088744 0.00006
NM_015166.4(MLC1):c.229C>G (p.Pro77Ala) rs1259479522 0.00002
NM_015166.4(MLC1):c.178-10T>A rs80358243 0.00001
NM_015166.4(MLC1):c.178-13C>T rs1569252040 0.00001
NM_015166.4(MLC1):c.183C>T (p.Cys61=) rs1436214826 0.00001
NM_015166.4(MLC1):c.186C>T (p.Leu62=) rs1314729155 0.00001
NM_015166.4(MLC1):c.198G>C (p.Ser66=) rs199991229 0.00001
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu) rs281875309 0.00001
NM_015166.4(MLC1):c.207G>A (p.Ser69=) rs2062188949 0.00001
NM_015166.4(MLC1):c.222C>T (p.Asn74=) rs759148867 0.00001
NM_015166.4(MLC1):c.240G>A (p.Met80Ile) rs281875310 0.00001
NM_015166.4(MLC1):c.246C>T (p.Tyr82=) rs373531536 0.00001
NM_015166.4(MLC1):c.249G>T (p.Leu83Phe) rs1289520784 0.00001
NM_015166.4(MLC1):c.251G>A (p.Arg84His) rs1425784992 0.00001
NM_015166.4(MLC1):c.267+18C>T rs756282491 0.00001
NM_015166.4(MLC1):c.267+19G>A rs754362648 0.00001
NM_015166.4(MLC1):c.267+9C>T rs2146932553 0.00001
NM_015166.4(MLC1):c.178-11C>T rs2518359167
NM_015166.4(MLC1):c.178-12G>A rs757510976
NM_015166.4(MLC1):c.178-12G>T
NM_015166.4(MLC1):c.178-15_178-12dup rs2518359205
NM_015166.4(MLC1):c.178-20A>T rs1569252046
NM_015166.4(MLC1):c.178-9G>A rs2146933516
NM_015166.4(MLC1):c.178-9G>C rs2146933516
NM_015166.4(MLC1):c.181T>A (p.Cys61Ser) rs2518359057
NM_015166.4(MLC1):c.201G>A (p.Gly67=) rs2518358863
NM_015166.4(MLC1):c.207G>C (p.Ser69=) rs2062188949
NM_015166.4(MLC1):c.207G>T (p.Ser69=) rs2062188949
NM_015166.4(MLC1):c.213C>T (p.Tyr71=) rs2062188802
NM_015166.4(MLC1):c.217G>A (p.Gly73Arg) rs1729986593
NM_015166.4(MLC1):c.217G>C (p.Gly73Arg)
NM_015166.4(MLC1):c.218G>A (p.Gly73Glu) rs1602063709
NM_015166.4(MLC1):c.225G>C (p.Val75=) rs1440820914
NM_015166.4(MLC1):c.247T>A (p.Leu83Met) rs2518358338
NM_015166.4(MLC1):c.250C>T (p.Arg84Cys) rs281875311
NM_015166.4(MLC1):c.255T>G (p.Cys85Trp) rs2146932748
NM_015166.4(MLC1):c.257C>T (p.Ala86Val) rs2518358168
NM_015166.4(MLC1):c.267+16C>T rs2518357861
NM_015166.4(MLC1):c.267+17A>G rs2518357840
NM_015166.4(MLC1):c.267+18C>A rs756282491
NM_015166.4(MLC1):c.267+1G>A rs2518357998

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