List of variants in gene MBD5 reported by Athena Diagnostics Inc

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001378120.1(MBD5):c.1596A>G (p.Val532=)	rs114611333	0.00588
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn)	rs114314967	0.00198
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=)	rs35692977	0.00123
NM_001378120.1(MBD5):c.3754-9T>C	rs370173652	0.00100
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)	rs34995577	0.00061
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=)	rs144957555	0.00038
NM_001378120.1(MBD5):c.276A>G (p.Ala92=)	rs141855494	0.00022
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)	rs149278000	0.00020
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=)	rs543329958	0.00015
NM_001378120.1(MBD5):c.3951C>T (p.Ser1317=)	rs762115057	0.00002
NM_001378120.1(MBD5):c.415C>T (p.Pro139Ser)	rs1472737578	0.00001
NM_001378120.1(MBD5):c.4193G>A (p.Arg1398Gln)	rs727503999	0.00001
NM_001378120.1(MBD5):c.1680G>T (p.Met560Ile)	rs1574460777
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile)	rs116207524
NM_001378120.1(MBD5):c.4073C>T (p.Ala1358Val)

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