ClinVar Miner

List of variants studied for multiple self-healing squamous epithelioma by OMIM

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser)	rs387906696	0.00003
NM_004612.4(TGFBR1):c.1240C>T (p.Arg414Ter)	rs387906697
NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg)	rs587776865
NM_004612.4(TGFBR1):c.806-2A>C	rs587776866

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