List of variants in gene MMP21 studied for congenital anomaly of cardiovascular system

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_147191.1(MMP21):c.697+10C>G	rs28381286	0.00343
NM_147191.1(MMP21):c.890C>T (p.Thr297Met)	rs150851206	0.00037
NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter)	rs137955225	0.00026
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter)	rs145119918	0.00016
NM_147191.1(MMP21):c.643G>A (p.Glu215Lys)	rs145789868	0.00014
NM_147191.1(MMP21):c.1123C>T (p.Arg375Cys)	rs138944733	0.00001
NM_147191.1(MMP21):c.281G>C (p.Arg94Pro)	rs912256328	0.00001
NM_147191.1(MMP21):c.1303del (p.Ser435fs)
NM_147191.1(MMP21):c.1517T>C (p.Ile506Thr)
NM_147191.1(MMP21):c.240dup (p.Lys81fs)	rs886041273
NM_147191.1(MMP21):c.486C>T (p.Tyr162=)
NM_147191.1(MMP21):c.557G>T (p.Ser186Ile)	rs1312300020
NM_147191.1(MMP21):c.614G>A (p.Trp205Ter)
NM_147191.1(MMP21):c.626C>G (p.Thr209Arg)

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