List of variants in gene MCOLN1 reported by GeneReviews

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.1406A>G (p.Asn469Ser)	rs797044818	0.00001
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)	rs767122713	0.00001
AF287270:g.511_6943del
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del)	rs797044817
NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs)	rs797044823
NM_020533.3(MCOLN1):c.1615del (p.Ala539fs)	rs1555742780
NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=)	rs751298168
NM_020533.3(MCOLN1):c.236_237ins[NC_012920.1:m.12435_12527] (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer)

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