List of variants in gene MCOLN1 reported by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_020533.3(MCOLN1):c.406-2A>G	rs104886461	0.00009
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)	rs121908372	0.00004
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)	rs767122713	0.00001
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)	rs121908371	0.00001
NM_020533.3(MCOLN1):c.984+1G>A	rs767950930	0.00001
NM_020533.3(MCOLN1):c.1149C>G (p.Tyr383Ter)	rs376777270
NM_020533.3(MCOLN1):c.1308C>G (p.Tyr436Ter)	rs1599255682
NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs)	rs797044823
NM_020533.3(MCOLN1):c.680+1G>A	rs1599254152
NM_020533.3(MCOLN1):c.785T>C (p.Phe262Ser)	rs2022599557

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